Embedded Files
Yokota Lab Student Wins First Place at Falling Walls Lab Edmonton 2025
Yokota Lab Student Wins First Place at Falling Walls Lab Edmonton 2025
September 4, 2025
We are proud to announce that Harry Wilton-Clark, an MD/PhD student in the Yokota Lab, has won First Place at the Falling Walls Lab Edmonton 2025 competition. His presentation, “Breaking the Wall of Rare Disease Therapies,” impressed judges with its innovative vision and potential to transform treatments for neuromuscular disorders.
Falling Walls Lab is a global competition that challenges early-career researchers to pitch groundbreaking ideas in just three minutes, highlighting their potential for real-world impact. As Edmonton’s winner, Harry will represent our city on the international stage at the Falling Walls Lab Finale in Berlin, joining finalists from around the world.
Harry’s work focuses on the development of antisense oligonucleotide (ASO) therapies for rare neuromuscular diseases, including Duchenne Muscular Dystrophy (DMD). His research builds on the Yokota Lab’s expertise in exon skipping, peptide-conjugated oligonucleotides, and N-of-1 therapeutic strategies for patients with ultra-rare mutations.
The Yokota Lab congratulates Harry on this outstanding achievement and looks forward to supporting his continued contributions to the field of rare disease therapeutics.
New Preprint: Local Non-Coding Regulatory Elements in the Muscular Dystrophies
New Preprint: Local Non-Coding Regulatory Elements in the Muscular Dystrophies
September 3, 2025
We are pleased to announce that a new review article from the Yokota Lab, “Local Non-Coding Regulatory Elements in the Muscular Dystrophies”, is now available as a preprint on Preprints.org
This work, authored by Harry Wilton-Clark, Sebastian Hernandez Rodriguez, and Dr. Toshifumi Yokota, highlights the emerging role of non-coding RNAs (ncRNAs), long non-coding RNAs (lncRNAs), microRNAs (miRNAs), and epigenetic regulators in muscular dystrophies.
Traditionally, muscular dystrophy research has focused on protein-coding genes. However, an increasing body of evidence shows that non-coding regulatory elements also play a major role in disease mechanisms. This review brings together recent findings on:
Common non-coding mechanisms influencing multiple muscular dystrophies.
Disease-specific local non-coding regulators in Duchenne Muscular Dystrophy (DMD), Facioscapulohumeral Muscular Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Congenital Muscular Dystrophy (CMD), Oculopharyngeal Muscular Dystrophy (OPMD), and Myotonic Dystrophy (DM).
The therapeutic potential of targeting these pathways.
This article underscores the importance of looking beyond protein-coding regions to fully understand neuromuscular diseases and develop innovative therapeutic strategies.
Congratulations to Ahad Shah – Med Star Award Recipient!
Edmonton, AB — 31 August 2025
We are proud to share that Ahad Shah, a graduate student in the Yokota Lab, has been awarded the Med Star Award for Graduate Students from the University of Alberta’s Faculty of Medicine & Dentistry. This prestigious award recognizes excellence in graduate student research and is given to outstanding trainees whose work has made a significant impact.
Ahad received this recognition for his publication in Nature Communications, titled:
“DG9 boosts PMO nuclear uptake and exon skipping to restore dystrophic muscle and cardiac function.”
In this work, Ahad and the Yokota Lab team demonstrated that the DG9 peptide dramatically improves delivery of phosphorodiamidate morpholino oligomers (PMOs), enhancing their uptake into the nucleus where exon skipping occurs. This breakthrough restores dystrophin expression in both skeletal and cardiac muscle, addressing one of the key challenges in Duchenne muscular dystrophy (DMD) therapy—the lack of efficacy in the heart.
The study highlights the translational potential of DG9-PMO conjugates as a therapeutic strategy to improve muscle and cardiac outcomes in DMD and related neuromuscular diseases.
This achievement underscores Ahad’s exceptional contributions to advancing genetic medicine research and the Yokota Lab’s commitment to developing innovative therapies for rare diseases.
New Review Published in Cells: Cardiac Cell and Animal Models for DMD in the Era of Gene Therapy
New Review Published in Cells: Cardiac Cell and Animal Models for DMD in the Era of Gene Therapy
Edmonton, AB — 29 August 2025
We are pleased to announce the publication of our latest review article in Cells, titled “Cardiac Cell and Animal Models for Duchenne Muscular Dystrophy in the Era of Gene Therapy and Precision Medicine”
This work provides a comprehensive overview of how cardiac models—from induced pluripotent stem cell (iPSC)-derived cardiomyocytes to animal models—are being applied to study Duchenne muscular dystrophy (DMD) in the context of emerging RNA- and gene-based therapies. The review highlights:
Advances in iPSC-derived cardiomyocytes as a platform to evaluate ASO and gene therapies.
The role of murine and large-animal models in uncovering mechanisms of DMD-related cardiomyopathy and in translational testing.
How precision medicine approaches are reshaping therapeutic strategies for cardiac complications in DMD.
This publication builds on the Yokota Lab’s ongoing efforts to develop antisense oligonucleotide therapies and advanced delivery systems for neuromuscular and cardiac diseases.
Yokota Lab Advances Heart-Targeted Therapy for Duchenne Muscular Dystrophy
Yokota Lab Advances Heart-Targeted Therapy for Duchenne Muscular Dystrophy
Edmonton, AB — 14 August 2025 — A University of Alberta research team led by medical geneticist Dr. Toshifumi (Toshi) Yokota has identified a human-derived peptide that dramatically improves delivery of genetic therapies to the heart in Duchenne muscular dystrophy (DMD), a breakthrough that could help address one of the most urgent unmet needs in the field.
The study, recently published in Nature Communications, focuses on DG9, a small peptide that, when attached to an antisense oligonucleotide (ASO), boosts its ability to enter heart muscle cells — a tissue notoriously resistant to current exon-skipping drugs.
“More than 50 per cent of DMD patients die from cardiac failure,” said Yokota, who holds the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair. “While exon-skipping therapies like viltolarsen have made great strides in skeletal muscle, the heart has remained a major challenge. DG9 brings us closer to a solution.”
From Skeletal to Cardiac Muscle
From Skeletal to Cardiac Muscle
DMD is caused by mutations in the dystrophin gene, preventing production of a protein essential for muscle stability. Exon-skipping therapies, such as viltolarsen, act like molecular “Band-Aids” that allow cells to bypass faulty gene segments and produce a shorter but functional dystrophin protein.
However, the dense, less permeable structure of heart muscle cells has limited the ability of such drugs to reach therapeutic levels in cardiac tissue. DG9 was identified in collaboration with Dr. Hong Moulton (University of Oregon) through screening of multiple peptides for enhanced cell penetration. The team then partnered with Dr. Gavin Oudit, a cardiac specialist at the University of Alberta, to test the DG9-ASO conjugate in a DMD mouse model.
The results were striking: mice treated with DG9-conjugated morpholino targeting exon 44 showed restored dystrophin expression and improved cardiac function, alongside gains in skeletal muscle performance.
Potential Beyond DMD
Potential Beyond DMD
Yokota notes that DG9 could be applied to other neuromuscular disorders involving the heart, as it supports both exon skipping and exon inclusion strategies — together known as splice modulation.
The team estimates that with sufficient funding, the approach could enter early-phase human clinical trials within three to four years.
“Our ultimate goal is precision therapy — custom-designed ASOs for rare or even unique patient mutations,” said Yokota. “DG9 could help ensure those therapies work where they matter most: in the heart.”
Patient-Driven Progress
Patient-Driven Progress
The research builds on more than a decade of patient advocacy, funding, and collaboration. Yokota credits DMD patient groups for their perseverance.
“From our first demonstration of effective exon skipping in a severe animal model to the FDA approval of viltolarsen, patient communities have been our partners every step of the way. They understand the time and effort required to turn a discovery into a therapy.”
Both Dr. Yokota and Dr. Oudit are members of the Women and Children’s Health Research Institute (WCHRI).
📰 New Publication: RDCJ Symposium Report Highlights Collaborative Progress in Rare Disease Research
📰 New Publication: RDCJ Symposium Report Highlights Collaborative Progress in Rare Disease Research
August 8, 2025 – We are pleased to announce that our article, "Report on the Rare Disease Consortium Japan Inaugural Symposium – July 18, 2023, Shonan Health Innovation Park, Japan", has been published in the Journal of Neuromuscular Diseases. The article is available online through open access at https://doi.org/10.1177/22143602251356742.
This report summarizes key presentations and discussions from the inaugural symposium of the Rare Disease Consortium Japan (RDCJ), held at Shonan Health Innovation Park. The event brought together researchers, clinicians, patient advocates, government officials, and industry leaders to foster interdisciplinary collaboration and accelerate research and therapeutic development for rare diseases.
The article reflects contributions from a wide range of stakeholders in Japan's rare disease ecosystem and highlights RDCJ’s mission to:
Promote cross-sector collaboration
Integrate patient perspectives into research priorities
Advance innovative therapeutic approaches
Strengthen international partnerships
"It was an honour to co-author this report with esteemed colleagues committed to improving outcomes for people living with rare diseases. This symposium marked a meaningful step forward for Japan’s rare disease research network, and we are proud to contribute to its momentum," said Dr. Toshifumi Yokota, corresponding author and Professor in the Department of Medical Genetics at the University of Alberta.
The publication also emphasizes the importance of inclusive research frameworks and continued engagement with families and patient advocacy groups. We hope this report will serve as a valuable reference for stakeholders in Japan and globally who are working to bridge gaps in rare disease care and research.
We thank our collaborators in Japan for their vision and dedication, and we look forward to continuing this important work together.
📘 Citation:
Yokota et al. Report on the Rare Disease Consortium Japan Inaugural Symposium – July 18, 2023, Shonan Health Innovation Park, Japan. Journal of Neuromuscular Diseases. 2025. doi:10.1177/22143602251356742
Umme Sabrina Haque Awarded WCHRI Graduate Studentship to Advance Genetic Therapies for Children
Umme Sabrina Haque Awarded WCHRI Graduate Studentship to Advance Genetic Therapies for Children
August 6, 2025 — Edmonton, AB
We are delighted to announce that Umme Sabrina Haque, a graduate student in the Yokota Lab at the University of Alberta’s Department of Medical Genetics, has been awarded a prestigious Women and Children’s Health Research Institute (WCHRI) Graduate Studentship.
Sabrina’s research focuses on the development of antisense oligonucleotide (ASO) therapies for rare pediatric neuromuscular disorders. With a deep commitment to translational science, she is working on optimizing therapeutic strategies that could one day offer meaningful clinical benefits to children living with conditions such as spinal muscular atrophy (SMA) and giant axonal neuropathy (GAN).
Supported by the Stollery Children’s Hospital Foundation, the WCHRI Graduate Studentship is a highly competitive award that provides funding and recognition to outstanding graduate trainees pursuing innovative research in women’s, children’s, and perinatal health.
“We are incredibly proud of Sabrina’s accomplishments and her dedication to improving the lives of patients through science,” said Dr. Toshifumi Yokota, Professor and Research Chair in the Department of Medical Genetics. “Her work represents the next generation of personalized, RNA-based therapeutics, and this award is a well-deserved recognition of her potential.”
Sabrina is one of 16 graduate students selected this year across three colleges and seven faculties. Her inclusion in this exceptional cohort underscores the relevance and impact of her research on health outcomes for underrepresented populations.
We congratulate Sabrina on this achievement and look forward to her continued contributions to the field of genetic medicine.
About WCHRI
The Women and Children’s Health Research Institute is a partnership between the University of Alberta, Alberta Health Services, the Stollery Children’s Hospital Foundation, and the Alberta Women’s Health Foundation. WCHRI supports high-impact research that improves the health and lives of women and children through innovation, collaboration, and training.
📰 New Preprint from Yokota Lab Explores Cardiac Models for Duchenne Muscular Dystrophy in the Gene Therapy Era
5 August 2025 – Edmonton, Alberta
The Yokota Lab is pleased to announce the release of a new preprint titled “Cardiac Cell and Animal Models for Duchenne Muscular Dystrophy in the Era of Gene Therapy and Precision Medicine” now available on Preprints.org (DOI: 10.20944/preprints202508.0032.v1).
In this review, Dr. Toshifumi Yokota and postdoctoral fellow Dr. Hidenori Moriyama critically evaluate the current landscape of in vitro and in vivo cardiac models used to study Duchenne muscular dystrophy (DMD), particularly as the field advances toward antisense oligonucleotide therapies, gene editing, and vector-based gene delivery.
Given that cardiomyopathy is a leading cause of mortality in DMD, selecting appropriate model systems is essential for understanding disease progression and evaluating the efficacy and safety of novel interventions.
Key highlights of the preprint include:
Comparative analysis of DMD patient-derived iPSC cardiomyocytes, humanized mouse models, and CRISPR-edited lines.
Discussion of translational challenges in evaluating therapeutic delivery and cardiac functional outcomes.
Considerations for model selection in preclinical testing of emerging therapies such as PMO conjugates and AAV-based gene replacement.
This article provides timely insights for researchers developing cardiac-targeted therapies for DMD, particularly in light of growing interest in precision medicine approaches and N-of-1 trials.
We welcome readers to view the preprint and share feedback.
🔗 Read the full preprint:
https://www.preprints.org/manuscript/202508.0032/v1
📢 New Book Release: Exon Skipping and Inclusion Therapies, Second Edition Now Available from Springer Nature
📢 New Book Release: Exon Skipping and Inclusion Therapies, Second Edition Now Available from Springer Nature
4 August 2025 — We are pleased to announce the publication of the second edition of Exon Skipping and Inclusion Therapies, edited by Dr. Toshifumi Yokota, Professor and the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair at the University of Alberta, and colleagues.
Published by Springer Nature, this new edition provides a timely and comprehensive update on the latest advances in RNA-based therapeutics, particularly in the area of antisense oligonucleotide-mediated exon skipping and inclusion strategies for rare genetic disorders such as Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA).
The second edition features:
Expanded chapters on clinical translation, mechanistic studies, and next-generation delivery systems
Contributions from leading international experts in the field
New insights into regulatory frameworks, patient-centered design, and therapeutic efficacy
Updated protocols and emerging technologies for n-of-1 therapies, CRISPR-based editing, and peptide-oligonucleotide conjugates
“We are grateful to the global community of researchers and clinicians who contributed to this volume,” said Dr. Yokota. “The field of RNA therapeutics is evolving rapidly, and it is critical to share knowledge that can help bring safe, effective, and personalized treatments to patients with rare diseases.”
The book is now accessible as an eBook and will also be available in print via Springer Nature.
We thank Springer Nature for their collaboration and support in bringing this important volume to publication, and we look forward to continued dialogue and discovery in the RNA therapy field.
New Publication from Yokota Lab: Advancing RNA-Based Therapy for Duchenne Muscular Dystrophy
New Publication from Yokota Lab: Advancing RNA-Based Therapy for Duchenne Muscular Dystrophy
July 1, 2025
We are delighted to announce that our latest review article, "Brogidirsen and Exon 44 Skipping for Duchenne Muscular Dystrophy: Advances and Challenges in RNA-Based Therapy," has been published in Genes (doi: 10.3390/genes16070777).
This comprehensive review highlights the potential and ongoing challenges of exon 44 skipping therapy, with a focus on Brogidirsen, an investigational antisense oligonucleotide designed to restore the dystrophin reading frame in Duchenne muscular dystrophy (DMD) patients harboring specific mutations.
The article discusses the mechanistic underpinnings of exon skipping strategies, recent clinical developments, and key hurdles such as delivery efficiency, cardiac targeting, and immune responses. By evaluating the current state of RNA-based therapies and identifying critical areas for improvement, the paper aims to guide future research directions and support the development of more effective treatments for DMD. Special thanks to MDPI for facilitating the open-access publication, enabling the broad dissemination of this work to the scientific and patient communities worldwide.
📄 Read the full article: Genes journal website
📥 Download PDF: Full text PDF
Breakthrough Research Spotlighted as Saeed Anwar Successfully Defends PhD in Yokota Lab
June 14, 2025 | University of Alberta – Faculty of Medicine & Dentistry
We are proud to announce that Saeed Anwar, a doctoral candidate in the laboratory of Dr. Toshifumi (Toshi) Yokota, has successfully defended his PhD thesis.
Saeed’s dissertation, conducted in the globally recognized Yokota Lab, encompassed the design, optimization, and preclinical evaluation of antisense oligonucleotide (ASO) gapmers and splice-switching compounds targeting key disease genes. His research contributed to therapeutic strategies for a spectrum of rare genetic conditions including:
Facioscapulohumeral muscular dystrophy (FSHD) – through the silencing of aberrant DUX4 expression,
Dysferlinopathy (LGMD2B) – via modulation of DYSF transcript splicing,
Duchenne muscular dystrophy (DMD) – by developing exon skipping approaches
Fibrodysplasia ossificans progressiva (FOP) – through allele-selective knockdown of ACVR1 gain-of-function mutations.
The PhD defence was held in a hybrid format, with distinguished external examiner Dr. Val Fajardo (Brock University), who commended Saeed’s robust scientific methodology, innovation in therapeutic oligo chemistry, and his commitment to addressing unmet clinical needs in rare disease populations.
This milestone marks not only Saeed’s individual achievement but also the Yokota Lab’s continued leadership in translational RNA research for genetic disorders. The team’s research is supported by collaborations with academic institutions, patient foundations, and industry partners globally.
Dr. Saeed Anwar is now preparing to transition into postdoctoral research, continuing his mission to bring oligonucleotide therapies closer to clinical application.
Congratulations, Dr. Anwar!
📢 New Preprint Announcement: Advancing RNA Therapy for DMD
26 May 2025 | Edmonton, Alberta
We are pleased to announce that our latest preprint, titled
“Brogidirsen and Exon 44 Skipping for Duchenne Muscular Dystrophy: Advances and Challenges in RNA-Based Therapy,”
is now publicly available on Preprints.org.
🔗 Read the full article here
🆔 Preprints ID: preprints-160982
📅 Posted: May 26, 2025
📄 DOI: 10.20944/preprints202505.1948.v1
This review highlights recent developments in exon 44 skipping strategies for Duchenne muscular dystrophy (DMD), with a focus on the investigational antisense oligonucleotide brogidirsen. We discuss the underlying mechanisms of action, therapeutic rationale, and challenges associated with RNA-based therapies for DMD, including delivery barriers, exon–intron junction variability, and patient-specific mutation landscapes.
This work was led by Annie Tang and reflects the Yokota Lab’s ongoing commitment to developing precision genetic medicine for neuromuscular disorders.
WCHRI Postdoctoral Fellowship Spotlights Dr. Hidenori Moriyama’s Work in Muscular Dystrophy Therapeutics
17 May 2025 | Edmonton, Alberta
We are delighted to share that Dr. Hidenori Moriyama, a postdoctoral fellow in the Yokota Lab, has been featured by the Women and Children's Health Research Institute (WCHRI) for his cutting-edge work developing new therapeutic delivery systems for muscular dystrophy.
In the recent WCHRI feature article, Dr. Moriyama was recognized as one of seven postdoctoral fellows selected across the University of Alberta for his commitment to improving health outcomes for children and families. His research focuses on enhancing the systemic delivery of antisense oligonucleotide (ASO) therapies, a promising class of genetic medicines.
“By improving how these medicines reach muscle tissue, we aim to slow disease progression, enhance quality of life, and offer children with muscular dystrophy a better chance at a healthier future,” Dr. Moriyama shared.
His work builds on the Yokota Lab’s long-standing expertise in RNA-based therapies, including the development of viltolarsen, an FDA- and PMDA-approved exon-skipping drug for DMD. Dr. Moriyama brings to the team a wealth of clinical and academic experience, having trained as a physician and scientist in Tokyo, Japan. His firsthand experience treating patients with rare neuromuscular conditions continues to inform his translational research goals.
The WCHRI postdoctoral fellowship, generously supported by the Stollery Children’s Hospital Foundation, provides $40,000/year for two years and empowers early-career scientists to develop novel approaches to urgent health challenges affecting women and children.
Dr. Moriyama is supervised by Dr. Toshifumi Yokota, Professor of Medical Genetics and the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair at the University of Alberta.
We congratulate Hidenori on this well-deserved recognition and are excited to support his efforts to bring next-generation therapies closer to the clinic.
Yokota Lab Featured in The Gateway for Advancing Gene Therapy Research
Yokota Lab Featured in The Gateway for Advancing Gene Therapy Research
– 17 May 2025
We are pleased to share that The Gateway, the University of Alberta’s official student news outlet, recently profiled Dr. Toshifumi Yokota and the work of the Yokota Lab in a feature titled “U of A researchers make advancements in gene therapy.” The article highlights the lab’s ongoing efforts to develop novel treatments for neuromuscular and genetic diseases using exon skipping and antisense oligonucleotides.
The feature traces Dr. Yokota’s journey from childhood in northern Japan to becoming an internationally recognized leader in genetic medicine. A formative experience — watching a physician save a parent’s life using advanced brain imaging and surgical techniques — first sparked an interest in medical science.
“They saved my mother’s life,” Dr. Yokota shared. “That experience made me want to pursue research that could do the same for others.”
During doctoral training at the University of Tokyo, Dr. Yokota developed a focus on genetic diseases and later trained at Imperial College London and in Washington, D.C., where work in large-animal models of Duchenne muscular dystrophy (DMD) helped lay the foundation for exon-skipping therapies. This research contributed to the eventual development of an FDA-approved drug in 2020.
While the article celebrates these accomplishments, it also highlights ongoing challenges in therapeutic delivery. One key barrier remains the limited efficacy in cardiac tissue.
“There’s no significant effect on the heart muscle at all. Delivery is the biggest challenge that we are working on.”
Since joining the University of Alberta in 2011 as the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair, Dr. Yokota has continued building a world-class team with support from patient communities, local families, and national organizations. The lab is now pursuing multiple preclinical programs targeting a broad range of neuromuscular and rare genetic conditions.
“We hope to further improve the effects [of treatments] using new technologies and start clinical trials in the next few years. We launched a new company to accelerate the development,” said Dr. Yokota.
With more than 140 types of neuromuscular diseases and thousands of untreatable genetic disorders, the scope for exon skipping is vast. The lab collaborates extensively with partners across Japan, the United States, and Canada to move research from the bench to the clinic.
“There is a lot of exciting progress using the complementary strengths of each institution. Lots of exciting things going on.”
We thank The Gateway for spotlighting this important work and for helping to share the promise of exon skipping and antisense-based therapies with the broader community.
The Yokota Lab remains committed to its core mission — developing transformative therapies to improve the lives of patients and families affected by rare genetic disease.
📢 Yokota Lab Publication Announcement Published in Nature Communications
– 14 May 2025
Title:
DG9 Boosts PMO Nuclear Uptake and Exon Skipping to Restore Dystrophic Muscle and Cardiac Function
DOI: 10.1038/s41467-025-59494-8
We are excited to share that our latest study has been published in Nature Communications! This work highlights the therapeutic potential of the DG9 peptide in enhancing the delivery and efficacy of phosphorodiamidate morpholino oligomers (PMOs) for Duchenne muscular dystrophy (DMD).
🧬 Key Findings:
🧬 Key Findings:
DG9–PMO conjugates significantly increase nuclear delivery and exon skipping efficiency in dystrophic muscle cells.
The approach leads to robust restoration of dystrophin expression in both skeletal and cardiac muscle, addressing a critical need in DMD therapy.
Functional improvements in both skeletal and heart muscles observed in treated DMD models underscore the potential for systemic, multi-tissue benefit.
This publication represents an important milestone in our efforts to develop next-generation oligonucleotide therapies for rare neuromuscular diseases. The project was made possible through collaborative efforts across our team and partners, and supported by generous funding from numerous organizations and patient communities.
Stay tuned for upcoming work as we advance toward clinical translation and broaden the therapeutic potential of DG9-conjugated PMOs.
Yokota Lab Recognized in Muscular Dystrophy Canada's 2025 Research Grant Announcement
24 April 2025 | Edmonton, Alberta
The Yokota Lab is proud to be recognized in Muscular Dystrophy Canada’s (MDC) 2025 Neuromuscular Research Grant Announcement, which spotlights leading research efforts to improve the lives of individuals affected by neuromuscular disorders across Canada.
During the announcement held in April 2025, MDC highlighted funded research projects with the potential to drive meaningful clinical impact. The Yokota Lab was honoured for its work on spinal and bulbar muscular atrophy (SBMA) and Friedreich’s ataxia (FRDA) — two rare neuromuscular diseases for which new therapeutic options are urgently needed.
The SBMA project integrates community-based Indigenous partnerships, biomarker development, and oligonucleotide therapeutic strategies to address the disease’s disproportionate prevalence in certain Indigenous communities in Canada. Meanwhile, the FRDA initiative focuses on therapeutic testing and discovery.
These projects reflect the lab’s commitment to equitable, translational science and to advancing precision medicine approaches for underserved rare disease populations.
▶ Watch the full announcement event:
📺 View on YouTube
The Yokota Lab expresses sincere gratitude to Muscular Dystrophy Canada for this recognition and for supporting research that moves the field closer to effective therapies and improved patient outcomes.
— Yokota Lab Team
🔗 Learn more about our research
Yokota Lab Receives MDC Grant to Advance Antisense Therapy for Friedreich Ataxia and SBMA, with a Focus on Indigenous Health Equity
20 April 2025 | Edmonton, Alberta
The Yokota Lab at the University of Alberta has received a 2025 Clinical and Translational Science Research Grant from Muscular Dystrophy Canada (MDC) to support a pioneering project titled:
“Development of an enhanced antisense therapy using lipid nanoparticles for Friedreich ataxia and spinobulbar muscular atrophy (SBMA).”
This research aims to develop next-generation antisense oligonucleotide therapies for Friedreich ataxia and SBMA by harnessing lipid nanoparticle (LNP) delivery systems to improve therapeutic efficacy and biodistribution. The project is especially significant for Indigenous communities in Canada, where SBMA is more prevalent among Cree, Saulteaux, and Métis Nations — likely due to historical genetic bottlenecks.
The Yokota Lab’s approach integrates advanced molecular biology with a commitment to equity, community engagement, and translational outcomes that benefit underserved populations.
MDC is investing $900,000 in this year’s competition to accelerate clinical and translational neuromuscular research across Canada. This funding supports work that addresses urgent gaps in care, enables innovation in therapeutic development, and fosters inclusive health solutions.
To learn more about the Yokota Lab’s ongoing work in gene therapy and personalized medicine:
🔗 https://sites.google.com/ualberta.ca/yokota-lab
From Fulbright to the Frontlines of Genetic Therapy: Omar Sheikh’s Journey with the Yokota Lab
18 April 2025 — Edmonton, AB
The Yokota Lab at the University of Alberta was proud to host Fulbright Scholar Omar Sheikh, a Pakistani-American researcher living with Becker Muscular Dystrophy (BMD), for an eight-month research fellowship that left a lasting mark on both science and community.
Omar joined the lab in August 2019 as part of a Fulbright Open Study/Research Award to Canada, bringing his personal and academic passion for muscular dystrophy to a project rooted in patient-derived cell models and therapeutic innovation. Under the mentorship of Dr. Toshifumi Yokota, Omar explored antisense oligonucleotide strategies, gaining hands-on experience with experimental techniques used to develop therapies for neuromuscular diseases.
“Omar’s unique perspective as both a patient and a scientist brought extraordinary insight to our work,” said Dr. Yokota. “His determination, curiosity, and advocacy made him an inspiring member of our team.”
Omar’s work in the Yokota Lab focused on therapeutic approaches with the potential to restore dystrophin function, a key protein affected in Duchenne and Becker muscular dystrophies. His time in the lab also enabled him to connect with Muscular Dystrophy Canada, participate in disability advocacy initiatives, and engage deeply with the local and international student community at the University of Alberta.
Outside the lab, Omar made Edmonton his own—navigating both the city’s accessible infrastructure and its sometimes-harsh winter climate with the help of a mobility scooter and a can-do mindset. He actively participated in Toastmasters, the Japanese Conversational Club, and the U of A Feminist Club, among others, making connections across disciplines and cultures.
“Omar’s Fulbright was more than a research placement,” noted Dr. Yokota. “It was a powerful example of inclusion, mentorship, and the potential of global scientific exchange.”
While the COVID-19 pandemic brought his Canadian research experience to an early end in March 2020, Omar has continued to advocate for disability inclusion and equitable access in STEM. He remains in close contact with colleagues and friends he met in Edmonton, further embodying the Fulbright spirit of international collaboration and lifelong learning.
The Yokota Lab is honored to have been part of Omar’s journey—and looks forward to welcoming future scholars who share his passion for research, resilience, and making science more inclusive for all.
To learn more about the Yokota Lab and our research in neuromuscular gene therapy, visit Yokota Lab Website.
New Study Showcases Exon 44 Skipping Success Using Antibody-Oligonucleotide Conjugates for DMD
New Study Showcases Exon 44 Skipping Success Using Antibody-Oligonucleotide Conjugates for DMD
17 April 2025 — Edmonton, AB
A new collaborative study led by Avidity Biosciences and coauthored by Dr. Toshifumi Yokota and the Yokota Lab has been published in Nucleic Acids Research, showcasing promising results for Duchenne muscular dystrophy (DMD) exon 44 skipping using a next-generation therapeutic known as AOC 1044.
In this landmark paper, titled "AOC 1044 induces exon 44 skipping and restores dystrophin protein in preclinical models of Duchenne muscular dystrophy", researchers report that AOC 1044—an antibody–oligonucleotide conjugate (AOC) composed of a phosphorodiamidate morpholino oligomer (PMO) targeting exon 44 and an anti-transferrin receptor antibody—successfully enhances delivery to muscle and heart tissues, a long-standing barrier in exon skipping therapeutics.
Yokota Lab’s Pivotal Role
Yokota Lab’s Pivotal Role
The Yokota Lab at the University of Alberta played a key role in the in vivo mouse studies, which utilized a humanized DMD mouse model (hDMDdel45/mdx). This model, expressing the human dystrophin gene with a deletion of exon 45, was critical for evaluating the therapeutic potential of AOC 1044 for exon 44 skipping.
Mouse studies were performed in collaboration with Dr. Toshifumi Yokota’s team, who provided vital expertise in assessments, reinforcing the lab’s leadership in preclinical models of genetic therapy for neuromuscular disorders.
Key Findings
Key Findings
Robust exon 44 skipping and dystrophin restoration were observed in skeletal and cardiac muscles of the hDMDdel45/mdx mice after a single dose of AOC 1044.
Levels of dystrophin reached up to 10–11% in skeletal muscle and 6% in the heart at 4 weeks post-injection—well above what current FDA-approved PMOs achieve.
Treated mice also showed a reduction in serum biomarkers of muscle damage, supporting the potential functional relevance of the restored dystrophin protein.
The study also confirmed broad pharmacological activity in nonhuman primates, suggesting strong translational potential for human clinical trials, which are now underway (EXPLORE44 trial, NCT05670730).
Moving the Field Forward
Moving the Field Forward
This publication exemplifies the power of academic–industry partnerships. The collaboration between Avidity Biosciences and the Yokota Lab highlights how innovative platforms like AOCs can advance antisense oligonucleotide therapies toward clinical utility—particularly for patient subgroups, such as those with exon 44 amenable mutations, who currently lack approved exon-skipping treatments.
📄 Read the full paper: Nucleic Acids Research (2025)
🔬 Citation: Etxaniz U et al. Nucleic Acids Res. 2025; 53:gkaf241.
🧬 Supported by: Avidity Biosciences, with contributions from the University of Alberta, Yokota Lab
New Publication Alert: Update on Gene Editing in Duchenne Muscular Dystrophy
11 April 2025
11 April 2025
We are delighted to announce that a new review article from the Yokota Lab has just been published in Degenerative Neurological and Neuromuscular Disease, an open-access journal by Dove Medical Press.
The paper, titled “Gene Editing for Duchenne Muscular Dystrophy: From Experimental Models to Emerging Therapies”, is coauthored by Dr. Toshifumi Yokota and PhD student Umme Sabrina Haque. This timely review explores the evolving landscape of CRISPR/Cas9 and other gene editing approaches in the treatment of Duchenne muscular dystrophy (DMD), one of the most common and severe forms of childhood-onset muscular dystrophy.
In this article, the authors examine both preclinical breakthroughs and ongoing clinical trials, discussing the potential, limitations, and ethical considerations of genome-editing therapies. The review also highlights the importance of precision and safety in designing patient-customized interventions, reflecting the Yokota Lab's ongoing commitment to translational and patient-centered research.
🧬 Read the full article here:
👉 https://www.dovepress.com/articles.php?article_id=102010
New Gene Therapy Approach Shows Promise for Treating Dysferlinopathy
New Gene Therapy Approach Shows Promise for Treating Dysferlinopathy
11 March 2025
11 March 2025
University of Alberta researchers develop an exon-skipping molecule to restore muscle-repairing protein function
University of Alberta researchers develop an exon-skipping molecule to restore muscle-repairing protein function
A University of Alberta research team, led by Dr. Toshifumi Yokota, has taken an important step toward developing a gene therapy for dysferlinopathy, a rare neuromuscular disorder that impairs the body’s ability to repair damaged muscles.
In a newly published study, the team developed a novel antisense oligonucleotide (ASO) designed to restore the function of the dysferlin protein in cells derived from dysferlinopathy patients. By using an approach known as exon skipping, the ASO allows cells to bypass the genetic mutation responsible for the disease, enabling the production of functional dysferlin.
What is Dysferlinopathy?
What is Dysferlinopathy?
Dysferlinopathy is a group of rare genetic disorders caused by mutations in the DYSF gene, which leads to a deficiency in the dysferlin protein—a crucial component in muscle repair. This condition affects between 1 in 1,300 to 1 in 200,000 people worldwide, with symptoms typically appearing in the late teens or early adulthood. Over time, patients experience progressive muscle weakness, significantly impacting mobility and quality of life.
Leveraging Machine Learning for Faster Drug Discovery
Leveraging Machine Learning for Faster Drug Discovery
To accelerate the development of this new exon-skipping therapy, Dr. Yokota’s lab collaborated with international experts in computer science, neurology, and genetics to create eSkip-Finder, a machine learning-based tool designed to predict the most effective genetic targets for exon skipping.
“Traditionally, we had to test many antisense oligonucleotides for efficacy in each cell model, but now our machine learning tool helps predict the best sequences, making the entire process more efficient,” explains Dr. Yokota.
Building on Past Success in Muscular Dystrophy Treatments
Building on Past Success in Muscular Dystrophy Treatments
This work builds on the Yokota Lab’s previous success in developing viltolarsen, a U.S. FDA- and Japan-approved exon-skipping drug for Duchenne muscular dystrophy (DMD). The lab is now working to translate similar exon-skipping approaches for other rare neuromuscular diseases.
Next Steps: Toward Clinical Applications
Next Steps: Toward Clinical Applications
With this new exon-skipping molecule showing promise in patient-derived cells, the next steps include:
✅ Testing in animal models to assess safety and efficacy
✅ Further optimization of the ASO design
✅ Preparing for future clinical trials
“Our ultimate goal is to develop safe and effective genetic therapies to help patients regain mobility and improve their quality of life,” says Dr. Yokota.
Acknowledgments and Funding
Acknowledgments and Funding
This research was made possible thanks to the generosity of patients and donors, as well as support from:
Muscular Dystrophy Canada
Canada Foundation for Innovation
Canadian Institutes of Health Research (CIHR)
Alberta Innovates
Stollery Children’s Hospital Foundation through the Women & Children’s Health Research Institute (WCHRI)
Alberta Advanced Education
Dr. Yokota is also a member of the Neuroscience and Mental Health Institute (NMHI) at the University of Alberta.
Stay Connected
Stay Connected
For more updates on our research and ongoing projects, visit Yokota Lab Website.
CIHR Funds Interdisciplinary Study on SBMA in Indigenous Communities, Including Yokota Lab Collaboration
March 4, 2025
The Canadian Institutes of Health Research (CIHR) has awarded funding for an interdisciplinary study on spinal-bulbar muscular atrophy (SBMA) in Indigenous communities of the Prairie Provinces. This five-year project, supported by a $1.3 million grant, aims to address community needs while advancing clinical knowledge and potential therapies for SBMA.
The study is led by Dr. Gerald Pfeffer (University of Calgary), Dr. Alexandra King (University of Saskatchewan), Dr. Kerri Schellenberg (University of Saskatchewan), and Dr. Toshifumi Yokota (University of Alberta), with co-investigators Dr. Malcolm King, Kehinde Ametepee, Jamie N. Leckie, Rika Maruyama, and Ashley Secundiak.
Understanding SBMA in Indigenous Populations
Understanding SBMA in Indigenous Populations
SBMA is a rare adult-onset neuromuscular disorder that affects motor neurons and muscles, leading to progressive weakness in the face, neck, limbs, and respiratory system, with additional impacts on the heart, pancreas, liver, and reproductive system. A previous pilot study in 2021 identified an unusually high prevalence of SBMA among Indigenous populations in Saskatchewan, linked to a founder effect. This suggests that a common ancestor passed down the genetic mutation over generations.
This new study will build on these findings by:
Expanding community engagement to better understand the needs of individuals affected by SBMA.
Investigating genetic factors contributing to SBMA prevalence.
Highlighting the resilience of Indigenous individuals living with SBMA through a photovoice study (a method where participants use photography to document and share experiences).
Exploring potential therapeutic interventions to improve disease management.
Community-Centered Approach
Community-Centered Approach
A key aspect of this project is its commitment to Indigenous-led research and community collaboration. The research team will work closely with affected individuals to identify gaps in healthcare resources, improve education on SBMA, and develop tailored support programs.
Dr. Hidenori Moriyama Awarded WCHRI Postdoctoral Fellowship for Advancing Antisense Oligonucleotide Therapeutics
15 February 2025 – Edmonton, AB
We are thrilled to announce that Dr. Hidenori Moriyama, a postdoctoral fellow in the Yokota Lab at the University of Alberta, has been awarded the 2024 WCHRI Postdoctoral Fellowship. This prestigious award, funded by the Stollery Children’s Hospital Foundation (SCHF), recognizes Dr. Moriyama’s innovative research in developing next-generation antisense oligonucleotide (ASO) therapeutics for muscular dystrophy.
The Women and Children's Health Research Institute (WCHRI) provides this competitive fellowship to outstanding postdoctoral researchers dedicated to improving the health of women and children. The program supports cutting-edge research across disciplines, fostering scientific advancements with real-world clinical impact.
Dr. Moriyama’s research focuses on enhancing the delivery and efficacy of antisense oligonucleotides, a promising therapeutic approach for neuromuscular disorders. His work aims to optimize drug delivery systems, improving tissue targeting and treatment outcomes for patients with muscular dystrophy and related genetic conditions.
We extend our congratulations to all 2024 WCHRI Postdoctoral Fellowship recipients and express our gratitude to WCHRI, SCHF, and the Alberta Women’s Health Foundation (AWHF) for their continued support of groundbreaking research.
Stay tuned for further updates on Dr. Moriyama’s research and the latest developments from Yokota Lab.
New Paper Published: Integrating Machine Learning into ASO Therapy Design
New Paper Published: Integrating Machine Learning into ASO Therapy Design
3 February 2025
We are excited to announce that our latest review article, "Integrating Machine Learning-Based Approaches into the Design of ASO Therapies", has been published in Genes as part of the Special Issue on Human Genomics and Genetic Diseases 2024. The paper is co-authored by Dr. Toshifumi Yokota and Jamie Leckie from the Department of Medical Genetics at the University of Alberta.
📄 Read the full article: Link to the paper
About the ARTICLE
About the ARTICLE
Antisense oligonucleotides (ASOs) have emerged as promising therapeutics for rare genetic diseases, offering precise RNA-targeting mechanisms to modulate gene expression. However, the optimization of ASO sequences and chemical modifications remains a major challenge in drug development.
In this review, we explore the potential of machine learning-based platforms, including eSkip-Finder and ASOptimizer, to streamline ASO design. These computational tools leverage extensive experimental data to predict the efficacy of ASOs, enabling researchers to rapidly identify optimized sequences for therapeutic applications. The study discusses:
🔹 The current challenges in ASO development
🔹 The role of machine learning in predicting ASO efficacy
🔹 Case studies demonstrating the impact of AI-driven ASO optimization
🔹 Future directions to improve ASO-based precision medicine
Significance
Significance
The integration of artificial intelligence (AI) and machine learning in ASO design represents a transformative step in developing personalized medicine for rare diseases. By reducing reliance on time-consuming experimental trials, these tools have the potential to accelerate drug discovery and enhance therapeutic outcomes. us on social media!
Stay tuned for more developments from the Yokota Lab as we continue our mission to advance gene therapy and precision medicine!
Groundbreaking Study on Exon Skipping Therapy for Dysferlinopathies Published by Dr. Yokota’s Lab
Date: January 26, 2025
Dr. Toshifumi Yokota and the research team at the University of Alberta have achieved another milestone with the publication of the latest research article, "Analysis of Exon Skipping Applicability for Dysferlinopathies". This study is a collaborative effort by Jamie Leckie, Sebastian Hernandez Rodriguez, Martin Krahn, and Dr. Yokota. The article explores the potential of antisense oligonucleotide (ASO)-mediated exon skipping to target pathogenic variants in the DYSF gene, offering new hope for patients affected by dysferlinopathies, a group of rare and debilitating muscular disorders.
Key Highlights of the Research
Key Highlights of the Research
Comprehensive Data Analysis: Using data from the UMD-DYSF database, the study evaluated all reported pathogenic variants in dysferlinopathy patients to identify theoretically applicable single- and double-exon skipping strategies.
Wide Applicability: The team identified 61 exon skipping strategies that could potentially address 90% of pathogenic variants in patients. Of these, single-exon skipping strategies accounted for 44.6%, while double-exon skipping strategies addressed an additional 45.3%.
Promising Targets: The most widely applicable exon skipping targets include exons 28 and 29 (9.0%), exons 27 and 28 (6.7%), and exons 50 and 51 (5.4%).
Future Implications: While the study highlights the theoretical applicability of these strategies, further preclinical and clinical evaluations are required to confirm the functionality of truncated proteins generated through exon skipping.
Advancing Therapeutic Development
Advancing Therapeutic Development
This research underscores the potential of ASO-mediated therapies to provide personalized treatment options for rare genetic disorders. By analyzing pathogenic variants and identifying broadly applicable strategies, the lab aims to streamline the prioritization of therapies that could benefit the largest number of patients. The findings pave the way for future preclinical studies and clinical trials aimed at delivering disease-modifying treatments to underserved patient populations.
Acknowledgments and Funding
Acknowledgments and Funding
This study was supported by numerous organizations, including Muscular Dystrophy Canada, the Friends of Garrett Cumming Research Fund, the HM Toupin Neurological Science Research Fund, the Canadian Institutes of Health Research (CIHR), Alberta Innovates, Jesse’s Journey, the Women and Children’s Health Research Institute (WCHRI), and the Heart and Stroke Foundation of Canada.
Gratitude was expressed to Christophe Béroud and Martin Krahn, curators of the UMD-DYSF database, for their invaluable contributions, as well as to the dedicated research team and collaborators in Canada and France.
Access the Full Article
Access the Full Article
The article is freely available as an open-access publication: Read the full article here.
About Dr. Toshifumi Yokota’s Lab
About Dr. Toshifumi Yokota’s Lab
Dr. Yokota’s lab at the University of Alberta focuses on developing innovative therapies for neuromuscular diseases, including Duchenne muscular dystrophy and dysferlinopathies. With a strong commitment to translational research and patient advocacy, the lab continues to lead in the field of antisense oligonucleotide and gene-editing therapies.
Contact Information: Website: Yokota Lab
Stay tuned for more updates and breakthroughs from Dr. Yokota’s lab!
Yokota Lab Recognized as #1 in Muscular Dystrophy Research in the World by ScholarGPS
11 January, 2025
The Yokota Lab at the University of Alberta celebrates an extraordinary achievement: being ranked as the #1 contributor worldwide in muscular dystrophy research over the past five years (2024), according to ScholarGPS. This distinction underscores the lab's dedication to advancing knowledge and therapies in the fight against muscular dystrophy. The lab was also ranked #3 in personalized medicine and #3 in oligonucleotide research.
This global recognition highlights impactful work in the field of genetics, focusing on innovative treatments for Duchenne muscular dystrophy (DMD) and other rare genetic conditions.
In addition, the University of Alberta has been ranked as the #2 academic institution globally in muscular dystrophy research over the prior five years, a testament to the institution's strong leadership and commitment to excellence in this field.
About ScholarGPS
ScholarGPS is a comprehensive academic analytics platform that identifies and ranks the most productive and impactful scholars across over 350,000 fields, disciplines, and specialties. It evaluates researchers based on lifetime or five-year academic activity, weighing publication output and citation impact through rigorous bibliometric analyses. The platform offers unparalleled insights into research impact by categorizing over 200 million scholarly publications.
The Muscular Dystrophy Rankings
The rankings for muscular dystrophy specialists consider the profound impact (citations) and productivity of researchers worldwide. ScholarGPS includes scholars from all affiliations, regardless of academic status or location. The 2024 results highlight excellence in life sciences and genetics, with the Yokota Lab securing the top spot, followed by other global leaders in the field:
#2 Annemieke Aartsma-Rus (Leiden University, Netherlands): Renowned for contributions to antisense oligonucleotide therapy.
#3 Francesco Muntoni (NIHR Great Ormond Street Hospital, UK): Specializing in pediatric neuromuscular disorders.
#4 Kathryn R. Wagner (Kennedy Krieger Institute, USA): Leading efforts in neurology and muscular dystrophy treatment.
#5 Eric N. Olson (University of Texas Southwestern Medical Center, USA): A pioneer in molecular and cell biology.
Top Academic Institutions in Muscular Dystrophy Research (Prior Five Years):
Ohio State University (USA)
University of Alberta (Canada)
University of Texas Southwestern Medical Center (USA)
Leiden University (Netherlands)
University of Oxford (United Kingdom)
The Yokota Lab contributed significantly to the University of Alberta's high ranking, reflecting the lab's groundbreaking research in genetics and therapeutic development for Duchenne muscular dystrophy (DMD) and related neuromuscular diseases.
Why This Recognition Matters
The Yokota Lab’s ranking as #1 reflects the impact of its work on genetic research and therapeutic innovation. Recent advancements include breakthroughs in antisense oligonucleotide therapy, exon-skipping strategies, and genome editing for Duchenne muscular dystrophy and other neuromuscular conditions.
A Team Effort
This achievement showcases the collaborative spirit within the lab and the broader research community. Gratitude is extended to funding agencies, collaborators, and patient communities who continue to support this mission. ScholarGPS’s recognition reinforces the importance of teamwork and innovation in addressing critical healthcare challenges.
Looking Forward
The Yokota Lab remains committed to accelerating research efforts and improving the lives of those affected by muscular dystrophy. This milestone motivates continued exploration of cutting-edge therapies and collaborative opportunities worldwide.
For more information about ScholarGPS and the ranking methodology, visit ScholarGPS.
New Publication on Advancing Therapeutic Nucleic Acids Delivery
9 January, 2025
We are thrilled to announce the publication of our latest review article in Molecules titled "Endosomal Escape and Nuclear Localization: Critical Barriers for Therapeutic Nucleic Acids" by Randall Allen and Dr. Toshifumi Yokota.
Abstract Summary
Therapeutic nucleic acids (TNAs), such as antisense oligonucleotides (ASOs) and small interfering RNA (siRNA), hold immense promise as innovative treatments for a variety of diseases. These molecules allow for the precise modulation of gene expression, targeting previously "undruggable" genes. However, significant biological barriers, particularly endosomal entrapment and inefficient nuclear localization, limit their clinical efficacy. This review explores strategies to address these challenges, including endosomal escape agents, peptide-TNA conjugates, non-viral delivery vehicles, and nuclear localization signals, paving the way for improved TNA-based therapies.
Publication Details
Authors: Randall Allen, Dr. Toshifumi Yokota
Journal: Molecules
DOI: 10.3390/molecules29245997
PMID: 39770086
This work highlights critical advancements in understanding and overcoming key bottlenecks in therapeutic nucleic acid delivery, offering a glimpse into the future of precision medicine.
Key Highlights:
Examination of endosomal escape mechanisms for TNAs.
Strategies for efficient nuclear localization to enhance therapeutic outcomes.
A comprehensive review of innovative approaches like peptide-TNA conjugates and non-viral delivery vehicles.
To learn more about our ongoing projects and explore opportunities for collaboration, visit our lab website.
Explore Our Research
Stay tuned for more updates from the Yokota Lab as we continue to push the boundaries of genetic medicine!
Yokota Lab Publishes Review on Integrating Machine Learning in ASO Therapy Design
2 January, 2025
The Yokota Lab is excited to announce the publication of a new preprint review article, "Integrating Machine Learning-Based Approaches into the Design of ASO Therapies," which is now available on Preprints.org. This comprehensive review explores the innovative intersection of artificial intelligence and molecular therapeutics, focusing on how machine learning (ML) can revolutionize the design of antisense oligonucleotide (ASO) therapies.
ASOs are a promising tool for treating a variety of genetic disorders by modulating RNA expression. However, their design process can be labor-intensive and prone to inefficiencies. In this review, our team highlights the transformative potential of ML algorithms to streamline ASO development. From predicting target binding affinity and specificity to identifying optimal chemical modifications, machine learning offers a powerful approach to enhance therapeutic precision and efficacy.
Key Highlights of the Review:
Exploration of current ML models applied in ASO therapy design.
Discussion on overcoming challenges such as off-target effects and delivery issues.
Insights into future trends and applications in personalized medicine.
The publication underscores the lab's commitment to advancing therapeutic strategies through interdisciplinary innovation. It also aligns with our broader mission to address rare and neuromuscular diseases using cutting-edge science.
Read the Full Article:
https://www.preprints.org/manuscript/202501.0135/v1
DOI: 10.20944/preprints202501.0135.v1
Exciting Publication Alert from Yokota Lab! Is Duchenne Gene Therapy a Suitable Treatment Despite Its Immunogenic Class Effect?
1 January, 2025
We are thrilled to announce the publication of our latest research article titled, "Is Duchenne Gene Therapy a Suitable Treatment Despite Its Immunogenic Class Effect?", in the prestigious journal Expert Opinion on Drug Safety.
This study delves into the challenges and opportunities presented by gene therapy for Duchenne Muscular Dystrophy (DMD), particularly examining the immunogenic responses that may arise as a class effect of these therapies. Our work provides valuable insights into balancing the promise of gene therapy with the practical considerations needed for its safe and effective application in patients.
You can access the full article here: https://www.tandfonline.com/eprint/BFZQKYN3YY3AHAVX9S27/full?target=10.1080/14740338.2024.2447072
Yokota Lab Publishes Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy
20 November, 2024
The Yokota Lab is thrilled to announce the publication of its latest study, "An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database," in the journal Genes. This review provides a comprehensive evaluation of the potential of antisense oligonucleotide (ASO)-mediated exon-skipping therapies to treat Duchenne muscular dystrophy (DMD), a severe genetic disorder.
Key Findings
Key Findings
The study leverages the UMD-DMD database to assess single, double, and multi-exon-skipping strategies for over 2,800 DMD-associated mutations. The findings reveal that:
Single and double exon-skipping strategies are theoretically applicable to 90.3% of DMD mutations.
FDA-approved ASOs targeting exons 45, 51, and 53 are applicable to 27% of patients but leave significant unmet needs in the DMD population.
Multi-exon-skipping approaches targeting exons 3–9 and 45–55 offer broader applicability, with the exon 45–55 strategy potentially benefiting 60.9% of large deletions.
These findings underscore the critical need for continued development of novel exon-skipping therapies to address the diverse mutations affecting DMD patients.
Implications for DMD Therapy
Implications for DMD Therapy
Antisense oligonucleotides are a promising therapeutic approach for restoring the disrupted reading frame of the dystrophin gene, enabling the production of partially functional dystrophin protein. The study highlights the urgent need to expand the repertoire of exon-skipping therapies to ensure greater accessibility for patients worldwide.
Acknowledgments
Acknowledgments
The study was supported by Muscular Dystrophy Canada, the Canadian Institutes of Health Research (CIHR), Alberta Innovates, Jesse’s Journey, and other funding organizations. The lab extends its gratitude to Christophe Béroud and Martin Krahn for their contributions to the UMD-DMD database.
Read the Full Article
Read the Full Article
The paper is openly accessible on the Genes website:
Website Link
PDF Version
The Yokota Lab congratulates Jamie and Abdullah for their exceptional work on this publication. This marks another significant milestone in the lab's mission to bring innovative therapies to patients with neuromuscular diseases. Stay tuned for more updates from the Yokota Lab!
Harry Wilton-Clark of Yokota Lab Wins Prestigious Award for Breakthrough Research in Duchenne Muscular Dystrophy Edmonton, Alberta – November 8, 2024
This week, the Yokota lab gained recognition at the Women and Children’s Health Research Institute (WCHRI) Annual Research Day, where Harry Wilton-Clark, an MD/PhD student in the lab, received an oral presentation award for his cutting-edge research on exon skipping therapy to treat a young boy with DMD.
Wilton-Clark's project focuses on the exon skipping approach—a personalized therapeutic method aimed at restoring function in specific mutations of the DMD gene. This approach is part of a groundbreaking field of study that addresses the unique genetic profiles of individual patients. The project’s goal is to "skip" faulty exons within the DMD gene, effectively bypassing the mutations and restoring functional dystrophin protein in the muscle tissue. This would potentially improve muscle function and quality of life for patients with rare forms of muscular dystrophy, an avenue of hope for a condition previously deemed untreatable.
The recognition at WCHRI’s 17th Annual Research Day follows a series of recent accomplishments by the Yokota Lab. With ongoing support from leading health research foundations, including the Stollery Children's Hospital Foundation, the team have spearheaded a series of innovations in antisense oligonucleotide research and exon skipping. The lab’s contributions include the development of tools like eSkip-Finder, a machine-learning application that optimizes exon skipping design for specific gene mutations, which has garnered attention for its potential applications in numerous neuromuscular disorders.
Dr. Yokota holds the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair and leads a team of researchers dedicated to making strides in understanding and treating genetic disorders at the molecular level.
As the Yokota Lab continues to push the boundaries of what is possible in precision medicine, the team remains focused on its mission to advance therapeutic solutions for those with genetic conditions. The lab’s latest achievements reflect a growing recognition of its work, setting the stage for further research that promises to shape the future of personalized healthcare.
Advancing Antisense Therapeutics – Overcoming Key Barriers
October 27, 2024
We are excited to announce the publication of a preprint by Randall Allen and Dr. Toshifumi Yokota, titled “Endosomal Escape and Nuclear Localization: Critical Barriers for Antisense Therapeutics” on Preprints.org. This comprehensive review sheds light on two of the most significant challenges facing the field of antisense oligonucleotide (ASO) therapeutics: endosomal entrapment and inefficient nuclear localization.
ASOs are promising tools for treating a variety of genetic diseases by modulating gene expression at the RNA level. However, these molecules face critical delivery challenges once they enter cells. As outlined in this review, only a small fraction of ASOs escape the endosomal vesicles and reach their target mRNA in the cytosol or nucleus, limiting their therapeutic potential. Allen and Dr. Yokota dive deep into the mechanisms behind these bottlenecks and explore innovative strategies that could enhance the efficacy of ASO-based therapies.
The review highlights key advancements, including the use of endosomal escape agents, peptide-ASO conjugates, and non-viral delivery vehicles, all of which have the potential to overcome these hurdles. Furthermore, the authors emphasize the importance of nuclear localization for splice-switching oligonucleotides, which require direct interaction with pre-mRNA in the nucleus.
The continued research into ASO delivery systems is crucial to unlocking the full potential of these therapies. By addressing these barriers, the field can make significant strides toward treating diseases that were once considered "undruggable."
Stay tuned as we share more updates on this exciting area of research and future developments from Yokota Lab!
Editorial by Dr. Yokota and Dr. Moriyama Highlights Industry Interest in Gene Therapy for Duchenne Muscular Dystrophy
October 26, 2024- The Yokota Lab is excited to announce the publication of a new editorial, co-authored by Dr. Toshifumi Yokota and Dr. Hidenori Moriyama. The article, titled "Recent Developments and Industry Interest in Gene Therapy for Duchenne Muscular Dystrophy," provides a comprehensive overview of the current landscape of gene therapy for Duchenne muscular dystrophy (DMD), one of the most common genetic muscle diseases affecting children.
This editorial highlights key advancements in gene therapy approaches, including mini-dystrophin and micro-dystrophin therapies, which are making significant strides in addressing the underlying genetic causes of DMD. The publication also covers cutting-edge CRISPR-based therapies and discusses both the promise and challenges of these approaches. As gene therapy continues to evolve, industry interest is growing, with companies like Sarepta Therapeutics, Pfizer, and others leading the way in clinical trials and drug development.
Dr. Yokota and Dr. Moriyama's editorial underscores not only the excitement around the potential of these therapies but also the challenges, such as safety concerns, regulatory hurdles, and the need for ongoing monitoring of approved treatments. The article emphasizes the importance of a balanced approach, considering the risks and benefits of novel therapies, while urging for continued innovation in both gene therapy and other treatment strategies like exon skipping.
The Yokota Lab remains at the forefront of this groundbreaking research, aiming to contribute to the development of safer and more effective treatments for DMD and other neuromuscular disorders. This editorial is a valuable addition to the growing body of literature that seeks to provide hope and better outcomes for patients living with DMD.
About the Yokota Lab
The Yokota Lab, based at the University of Alberta, focuses on innovative therapeutic approaches to treat neuromuscular diseases such as Duchenne muscular dystrophy. Led by Dr. Toshifumi Yokota, the lab is renowned for its pioneering work in antisense oligonucleotide therapy and gene editing technologies.
Yokota Lab Student Randall Allen Wins Award for Antisense Oligonucleotide Research at 57th Annual Summer Students’ Research Day
October 24, 2024- We are thrilled to announce that Randall Allen, a talented member of the Yokota Lab, has won a prestigious award at the 57th Annual Summer Students’ Research Day for his outstanding work on antisense oligonucleotide (ASO) therapy for Giant Axonal Neuropathy (GAN). His poster, which showcased cutting-edge research on developing ASO treatments for this rare neurological disorder, impressed the judges and highlighted the innovative work happening within our lab.
Giant Axonal Neuropathy (GAN) is a devastating genetic condition that affects the nervous system, leading to progressive muscle weakness and cognitive decline. Currently, there is no cure for GAN, making research into potential therapies vital for patients and their families. Randall's work focuses on leveraging ASO technology to target and correct the underlying genetic mutations that cause GAN, offering hope for a new therapeutic approach.
The Annual Summer Students’ Research Day, hosted by the Faculty of Medicine & Dentistry at the University of Alberta, celebrates the achievements of students in biomedical research. The event provides an important platform for young researchers to present their work to the broader scientific community, gain feedback, and foster collaborations.
Congratulations to Randall and all the participants of this year’s event! The Yokota Lab remains committed to advancing research in genetic therapies and is excited to see where Randall’s promising work will lead in the future.
For more information about the event, visit the 57th Annual Summer Students' Research Day page.
Dr. Yokota’s Lab Publishes Review on Antisense Oligonucleotide Therapy for ALS
October 20, 2024- We are excited to announce that Dr. Toshifumi Yokota’s lab has recently published a comprehensive review article titled "Recent Progress of Antisense Oligonucleotide Therapy for Superoxide-Dismutase-1-Mutated Amyotrophic Lateral Sclerosis: Focus on Tofersen" in the journal Genes. This review provides an in-depth look at the current advances in antisense oligonucleotide (ASO) therapy, with a particular focus on the drug Tofersen, which targets the SOD1 mutation in amyotrophic lateral sclerosis (ALS).
ALS is a neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness and paralysis. One of the key genetic causes of ALS is mutations in the SOD1 gene, and recent advances in ASO technology have shown promise in silencing this gene and slowing disease progression.
The review highlights the latest developments in the field, focusing on how Tofersen has paved the way for ASO-based therapies in treating ALS. It summarizes clinical trial results and discusses potential future directions for improving delivery methods and extending the therapeutic reach of ASOs for ALS and other neurodegenerative diseases.
The article is available online and can be accessed at this link. Dr. Yokota’s lab looks forward to continuing its pioneering work in the development of gene therapies and contributing to the ongoing research aimed at tackling debilitating genetic disorders.
Stay tuned for more updates from the lab on cutting-edge research in the field of antisense therapies!
Dr. Toshi Yokota Honored at 2024 Innovation Awards for Breakthrough Achievements
October 19, 2024 – Dr. Toshifumi Yokota, Professor and holder of the Muscular Dystrophy Canada Endowed Research Chair at the University of Alberta, has been honored at the 2024 Innovation Awards. This prestigious event recognizes the groundbreaking contributions of researchers and innovators at the University of Alberta who have secured patents or successfully launched spin-off companies over the past year.
Dr. Yokota, whose research focuses on developing cutting-edge therapies for genetic neuromuscular disorders, has been a key driver of innovation. The Innovation Awards are hosted by UAlberta Research & Innovation and celebrate the remarkable achievements of university researchers who have not only made significant scientific breakthroughs but have also moved their innovations towards commercialization, demonstrating real-world impact.
Dr. Yokota's recognition at the Innovation Awards speaks to the continued success of the lab, where the team is actively working on novel treatments for genetic neuromuscular disorders. The award also shines a light on the importance of interdisciplinary collaboration, patient advocacy, and translational research in driving forward medical innovation.
New Preprint from Dr. Yokota’s Lab: Progress in Antisense Oligonucleotide Therapy for SOD1-mutated ALS
October 1, 2024 – Edmonton, AB —
We are thrilled to announce the release of our latest preprint, “Recent Progress of Antisense Oligonucleotide Therapy for SOD1-mutated ALS: Focus on Tofersen,” now available on Preprints.org. This paper dives into the advancements in antisense oligonucleotide (ASO) therapy, particularly focusing on Tofersen, a promising treatment for Amyotrophic Lateral Sclerosis (ALS) caused by mutations in the SOD1 gene.
ALS is a devastating neurodegenerative disease that leads to the progressive degeneration of motor neurons, typically resulting in death within five years of onset. Mutations in the SOD1 gene are one of the key genetic contributors to this condition. In recent years, the development of ASO therapies like Tofersen has brought new hope to patients suffering from this aggressive disorder.
Our preprint highlights the mechanisms behind Tofersen’s therapeutic approach and how this ASO therapy aims to reduce SOD1 protein aggregation—one of the hallmarks of ALS pathology. The paper also discusses the broader implications of ASO therapies for neurodegenerative diseases, positioning them as a frontier in genetic medicine.
Tofersen has shown potential not only in slowing the progression of ALS but also in offering insights into developing future therapies targeting other genetic forms of ALS and related disorders.
For those interested in exploring the full details of our research, the preprint is now accessible here.
Western Canadian Neuromuscular Conference 2024: Dr. Toshifumi Yokota Joins Esteemed Lineup
September 19, 2024 – Edmonton, AB —
Dr. Toshifumi Yokota, Professor and the Friends of Garrett Cumming Research Chair at the University of Alberta, will be one of the featured speakers at the highly anticipated Western Canadian Neuromuscular Conference (WCNMC), taking place from September 27-29, 2024, in Calgary. The conference brings together experts in neuromuscular disease research and treatment to share insights and advancements in diagnosis, management, and therapy for nerve, muscle, and motor neuron diseases.
The WCNMC is renowned for its transdisciplinary approach, making it a hub for collaboration between leading clinicians, researchers, and healthcare professionals. The agenda includes presentations from key figures in the field, such as Dr. Ming Chan from the University of Alberta, Dr. Kristine Chapman from the University of British Columbia, and Dr. Hanns Lochmuller from the University of Ottawa, among many others.
Dr. Yokota, whose research focuses on novel gene therapies for neuromuscular diseases like muscular dystrophy, will be delivering a presentation on translational research in neuromuscular disease during the Research Symposium on Sunday, September 29th, which will highlight the latest breakthroughs in genetic and antisense oligonucleotide therapies aimed at improving treatment outcomes for patients with rare neuromuscular disorders.
In addition to Dr. Yokota's talk, the conference will feature various expert-led discussions on genetic neuromuscular diseases, including Pompe disease, congenital myasthenic syndromes, and cardiac comorbidities of neuromuscular conditions. The event also includes a special focus on founder effects in Canada for diseases like myotonic dystrophy and spinal bulbar muscular atrophy, with presentations from Dr. Cynthia Gagnon (University of Sherbrooke) and Dr. Kerri Schellenberg (University of Saskatchewan).
Attendees can expect to engage with cutting-edge research, explore new treatment strategies, and connect with peers in the neuromuscular disease community. The WCNMC also offers an opportunity to network with leading researchers and physicians, culminating in a research symposium and poster presentations that will feature the latest findings in the field.
For registration and event details, visit the official WCNMC website.
Innovative DNA-like Molecule Therapy Offers Hope for Children with Fibrodysplasia Ossificans Progressiva
Sarah Hay and Dr. Toshifumi Yokota Lead Groundbreaking Research on Rare Genetic Disorder
September 19, 2024 – Edmonton, AB —
Under the mentorship of Dr. Toshifumi Yokota, Sarah Hay, an Honors Molecular, Cellular, and Developmental Biology student at the University of Alberta, is making significant strides in the treatment of Fibrodysplasia ossificans progressiva (FOP). This rare genetic disorder causes muscles and connective tissues to gradually turn into bone, severely limiting movement and quality of life for children affected by the disease. FOP arises due to a mutation in a specific gene, which leads to abnormal bone growth. Existing treatments, such as palovarotene, are not fully effective and often cause adverse side effects, particularly in young patients.
Hay’s project, part of the Summer Studentship Program and funded by the Stollery Children’s Hospital Foundation, introduces a promising new approach to address the limitations of current therapies. The research focuses on using artificial DNA-like molecules called antisense oligonucleotides (ASOs) to target and correct the gene mutation responsible for FOP. This innovative therapy has the potential to provide a safer and more effective treatment by reducing unwanted bone growth without harmful side effects.
The study will be tested in an animal model that closely mimics the human condition of FOP. By administering multiple injections of these ASOs, the team aims to observe improvements in symptoms and overall health.
The broader implications of the research extend beyond FOP, as the successful use of ASOs could open doors for treating other genetic disorders. This pioneering approach could mark a significant advancement in genetic medicine, offering a new path forward for children with conditions that currently have limited treatment options.
Sarah Hay’s project, supervised by Dr. Toshifumi Yokota, is part of a broader effort to advance therapeutic approaches for genetic diseases in children. The research, supported by the Women and Children's Health Research Institute (WCHRI) and key funding partners, reflects the commitment to improving the quality of life for patients suffering from rare and severe conditions.
OligomicsTx Launches New Website to Showcase Advancements in RNA Therapeutics for Neuromuscular Diseases
September 12, 2024 – Edmonton, AB — OligomicsTx, a pioneering biotech company focused on RNA-based therapies, is excited to announce the launch of its newly designed website, https://oligomicstx.com. The platform serves as a hub for the company’s groundbreaking research and innovations in the development of RNA therapeutics for neuromuscular diseases such as muscular dystrophy, spinal muscular atrophy, and more.
Founded by Dr. Toshifumi Yokota, a leading expert in the field of antisense oligonucleotide (ASO) therapies and a professor at the University of Alberta, OligomicsTx aims to push the boundaries of biotechnology by delivering next-generation RNA-based treatments to patients suffering from rare and often life-threatening neuromuscular disorders. The new website is designed to keep researchers, clinicians, and the general public informed about the company’s progress, clinical trials, and collaborative efforts.
Key Features of the New Website:
Research & Development: Comprehensive information on OligomicsTx’s cutting-edge research, including the development of antisense oligonucleotides and other RNA therapeutics targeting gene mutations that cause neuromuscular diseases.
Clinical Pipeline: Insights into the company’s therapeutic pipeline, including updates on clinical trials and collaborations with leading research institutions.
News & Events: Stay informed about the latest company news, scientific publications, and upcoming events related to OligomicsTx’s work in the biotech space.
Collaborations & Partnerships: Learn about the company’s partnerships with academic institutions, hospitals, and other biotech companies aimed at accelerating therapeutic advancements.
OligomicsTx has garnered significant attention for its innovative approach to RNA therapeutics, with a strong focus on personalized medicine and targeting rare diseases that have limited treatment options. The company’s mission aligns with the growing global interest in RNA-based therapies, which have shown immense potential in transforming the future of healthcare.
For more information and to stay updated on the latest developments, visit https://oligomicstx.com.
Yokota Lab Celebrates Publication of New Review Article on Oligonucleotide Therapies for FSHD
Yokota Lab Celebrates Publication of New Review Article on Oligonucleotide Therapies for FSHD
Edmonton, AB – August 22, 2024
We are thrilled to announce the publication of a new review article titled "Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape" in the International Journal of Molecular Sciences (IJMS). This comprehensive review was authored by Samuel L. Beck and Dr. Toshifumi Yokota, shedding light on the promising advancements in oligonucleotide-based therapies targeting the DUX4 gene, which is implicated in the pathogenesis of Facioscapulohumeral Muscular Dystrophy (FSHD).
FSHD is a progressive muscle-wasting disorder caused by the aberrant expression of the DUX4 protein in skeletal muscle. This review explores the various preclinical strategies that have been developed to inhibit DUX4 expression, focusing on antisense oligonucleotides, RNA interference, and other oligonucleotide-based approaches. These therapies represent a promising avenue for the treatment of FSHD, with several showing significant efficacy in preclinical models.
Dr. Yokota's team are at the forefront of this research, contributing valuable insights into the potential of these therapies to transform the treatment landscape for FSHD. The publication of this review marks an important milestone for the lab and underscores our commitment to advancing therapeutic strategies for neuromuscular diseases.
You can access the full article here. We encourage you to read and share this work with colleagues and peers to further the discussion and development of effective treatments for FSHD.
Highlights:
Highlights:
Publication Date: August 21, 2024
Journal: International Journal of Molecular Sciences (IJMS)
DOI: 10.3390/ijms25169065
Key Focus: Preclinical landscape of oligonucleotide therapies targeting DUX4 in FSHD.
We extend our heartfelt thanks to all our collaborators and supporters who have contributed to this research. Stay tuned for more updates from the Yokota Lab as we continue to push the boundaries of gene therapy research.
For more information about our lab and ongoing projects, please visit our website.
2024 Friends of Garrett Cumming Research Chair.pdfYokota Lab Releases 2024 Annual Report Highlighting Major Advancements in Muscular Dystrophy Research
Edmonton, AB – August 3, 2024 – The Yokota Lab at the University of Alberta has unveiled its 2024 annual report, showcasing significant strides in the field of muscular dystrophy research. Under the leadership of Dr. Toshifumi Yokota, the Friends of Garrett Cumming Research Chair, the lab continues to pioneer innovative therapies and collaborative efforts that bring hope to patients and families affected by neuromuscular disorders.
Key Highlights from the 2024 Annual Report
Groundbreaking Therapeutic Developments
One of the most notable achievements this year is the development of a DG9 peptide-conjugated morpholino, a molecule capable of crossing the blood-brain barrier to deliver targeted therapies directly to the central nervous system. This breakthrough holds promise for treating spinal muscular atrophy (SMA) and other genetic disorders affecting the brain and spinal cord, marking a significant advance in the ability to manage previously intractable diseases.
Machine Learning for Therapy Optimization
The Yokota Lab has also made significant progress in utilizing advanced machine learning techniques to refine the design of antisense oligonucleotides. These developments are crucial for improving the precision and effectiveness of exon-skipping therapies, particularly for Duchenne muscular dystrophy (DMD), enhancing patient-specific treatment outcomes.
Collaborative Efforts and Global Impact
In 2024, the Yokota Lab expanded its collaborative network, partnering with international biotech firms such as OligomicsTx and Avidity Biosciences to facilitate clinical trials. Additionally, the lab continues its collaboration with Dr. Pieter Cullis from the University of British Columbia, focusing on developing next-generation therapies for neuromuscular diseases.
Significant Grants and Awards
New Frontiers in Research Fund: Supporting innovative gene therapy approaches for spinal bulbar muscular atrophy (SBMA).
One Child Every Child Strategic Catalyst Award: Funding research into mRNA-based therapies for rare neurodevelopmental disorders.
Canadian Institutes of Health Research (CIHR) Project Scheme Grant: Investigating neutrophil responses in doxorubicin-induced myopathy in collaboration with colleagues at the Faculty of Medicine & Dentistry.
Recognition and Achievements
Dr. Toshifumi Yokota was honoured with the prestigious Canadian Academy of Health Sciences Fellowship in 2023, one of Canada's highest honours for researchers. Additionally, the lab's contributions were recognized at the Startup TNT Life Sciences Summit, where Dr. Yokota's work earned top accolades.
Future Directions
Looking ahead to 2024-25, the Yokota Lab aims to expand its research into gene editing technologies and RNA-targeted therapies. These efforts will focus on extending the applications of these groundbreaking treatments to additional genetic disorders beyond DMD and SMA, with plans to initiate pre-clinical testing towards Phase I/II clinical trials.
Acknowledgments
The progress and achievements detailed in the 2024 annual report are made possible by the generous support of the Friends of Garrett Cumming, Muscular Dystrophy Canada, and numerous donors and collaborators. The Yokota Lab remains committed to pushing the boundaries of medical science to bring new hope and treatment options to those affected by neuromuscular disorders.
Yokota Lab Publishes Comprehensive Review on Advances in Gene-Targeting Therapies for Spinal Muscular Atrophy
Yokota Lab Publishes Comprehensive Review on Advances in Gene-Targeting Therapies for Spinal Muscular Atrophy
30 July, 2024
We are thrilled to announce that Dr. Toshifumi Yokota's team at the University of Alberta have published a review article titled "Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges" in the prestigious journal Genes. This article, co-authored by Dr. Yokota and Umme Sabrina Haque, focuses on the latest advancements and ongoing challenges in the field of spinal muscular atrophy (SMA) therapy.
Key Highlights of the Review
Spinal muscular atrophy (SMA) is a severe genetic disorder marked by the loss of motor neurons, leading to progressive muscle weakness, loss of mobility, and respiratory complications. The condition, often fatal in its most severe forms if untreated, is caused by mutations in the SMN1 (survival of motor neuron 1) gene, which results in a deficiency of the survival motor neuron (SMN) protein. The existence of a nearly identical gene, SMN2, which modulates disease severity, has become a primary target for therapeutic interventions.
The review provides a comprehensive overview of the current therapeutic landscape, including:
Antisense Oligonucleotides (ASOs): These molecules modify the splicing of SMN2 to produce more functional SMN protein. The FDA-approved drug Nusinersen is a notable example.
Small Molecules: These include drugs like Risdiplam that enhance the production of SMN protein from the SMN2 gene.
Gene Replacement Therapy: Techniques such as the virus-mediated delivery of a functional copy of the SMN1 gene, exemplified by the FDA-approved therapy Onasemnogene abeparvovec (Zolgensma).
Additionally, the review highlights the necessity of developing SMN-independent therapies due to SMA’s broader phenotype affecting multiple organs. The evidence indicates that comprehensive treatment strategies, potentially involving combination therapies, are essential for addressing the full spectrum of SMA symptoms.
Acknowledgments
Dr. Yokota and Ms. Haque extend their heartfelt gratitude to the Genes editorial team and their collaborators for their support and contributions to this important work. They also express appreciation to the funding agencies and foundations that have supported their research efforts.
Read the Full Article
The full review article is accessible online and can be read here.
We invite you to explore this detailed review to gain deeper insights into the exciting advancements in SMA research and the promising therapeutic strategies on the horizon.
About Yokota Lab
Dr. Toshifumi Yokota's lab at the University of Alberta focuses on developing innovative therapies for neuromuscular diseases, including antisense oligonucleotide therapy and genome editing. The lab is committed to translating scientific discoveries into clinical applications to improve patient outcomes.
For more updates and information, please visit our lab website and follow us on Twitter.
Yokota Lab's Contribution Highlighted on the Cover of Genes
Yokota Lab's Contribution Highlighted on the Cover of Genes
29 July, 2024
We are thrilled to announce that the latest issue of Genes features a cover story on "Antisense Oligonucleotides as N-of-1 Therapies for Rare Diseases," designed by Harry, one of our talented graduate students. This special edition delves into the significant progress being made in the field of genetic therapies, with a particular focus on antisense oligonucleotides as personalized treatments for rare diseases.
Antisense Oligonucleotides: A Promising Therapeutic Approach
Antisense oligonucleotides (AONs) are small DNA or RNA molecules designed to bind to specific mRNA molecules. This innovative approach has shown immense potential in treating rare genetic disorders, which often lack effective treatments due to the unique nature of each patient's condition.
The Cover Story
The cover story in this issue of Genes highlights the advancements and breakthroughs in the application of AONs for rare diseases. Historically, developing therapies for rare diseases has been challenging due to low patient numbers and high development costs, which impede traditional clinical trials. However, recent N-of-1 trials using AONs have showcased the potential of these molecules as therapeutics for rare diseases.
The story provides an in-depth review of the development of N-of-1 antisense therapies to date, including the landmark case of Milasen. It also covers the evolving regulatory landscape surrounding antisense therapies for rare disease indications.
Read the Full Issue
We invite you to dive into the cover story and explore the comprehensive overview of antisense oligonucleotides as N-of-1 therapies for rare diseases. The full issue is available online at Genes Volume 15, Issue 7.
Acknowledgments
We extend our gratitude to the editorial team at Genes for this opportunity and to Harry for his exceptional design work. We also appreciate the continued support and collaboration of our colleagues, partners, and the broader scientific community.
Stay tuned for more updates on our ongoing research and advancements in the field of genetic therapies.
Yokota Lab's Latest Publication Sheds Light on Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy
Yokota Lab's Latest Publication Sheds Light on Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy
22 July, 2024
EDMONTON, AB — Researchers from the Yokota Lab at the University of Alberta have recently published a review on the preclinical progress of oligonucleotide therapies targeting Facioscapulohumeral Muscular Dystrophy (FSHD). The paper, co-authored by Samuel L Beck and Dr. Toshifumi Yokota, has been released on Preprints.org under the title "Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape."
Facioscapulohumeral Muscular Dystrophy (FSHD) is a complex muscular disorder, distinguished by progressive and asymmetric muscle wasting primarily affecting the face, shoulder blades, and upper arms. The pathology of FSHD arises from the inappropriate expression of DUX4, a genetic factor leading to muscle degeneration. Addressing this, the review meticulously discusses the latest advancements in oligonucleotide therapies that aim to suppress the harmful DUX4 expressions without involving gene editing.
This publication highlights several promising approaches in the field, ranging from antisense oligonucleotides to RNA interference and DNA-based strategies. The detailed preclinical evaluations presented in the review offer a hopeful outlook towards developing effective treatments for FSHD patients.
The paper is freely accessible on the Preprints platform, providing a valuable resource for researchers, clinicians, and stakeholders involved in neuromuscular and genetic therapy fields. For further details, the article can be viewed here.
For ongoing updates on our research and publications, visit the Yokota Lab website.
Congratulations to Sam Wilton-Clark on Winning the WCHRI Graduate Studentship Award!
11 July, 2024
The 2024 Graduate Studentship Competition by the Women and Children’s Health Research Institute (WCHRI) has announced its awardees, and we are thrilled to share that Sam Wilton-Clark, a dedicated member of Dr. Toshifumi Yokota’s lab, is among the recipients. Sam's project focuses on developing therapies for Duchenne muscular dystrophy by designing methods to "skip over" genetic mutations.
The WCHRI Graduate Studentship Program provides competitive funding to students engaged in full-time, thesis-based graduate programs at the University of Alberta. This prestigious award, valued at up to $18,000 per year, is renewable for up to two years.
Award-Winning Research
Sam's research, supervised by Dr. Yokota, aims to advance the treatment of Duchenne muscular dystrophy (DMD), a severe type of muscular dystrophy that primarily affects boys. His innovative approach involves using antisense oligonucleotides to skip over specific mutations in the DMD gene, potentially restoring the production of functional dystrophin protein. This research holds significant promise for improving the quality of life for patients with DMD.
Gratitude to Our Supporters
We extend our heartfelt gratitude to the Stollery Children’s Hospital Foundation (SCHF) for their continued support and financial contributions to this award program. Their commitment plays a crucial role in advancing medical research and supporting the next generation of scientists.
Acknowledging Excellence in Research
WCHRI, alongside committee chair Simon Gosgnach and co-chair Ben Willing, congratulates all awardees and appreciates the efforts of all applicants and supervisors. The competition was highly selective, with a funding rate of 28%, highlighting the exceptional quality of the awarded projects.
List of Awardees and Their Research Projects
For a complete listing of all awardees and their respective research projects, please visit the WCHRI Graduate Studentship Award Program webpage.
Join Us in Celebrating
We are incredibly proud of Sam Wilton-Clark and all the awardees for their outstanding achievements. Their work not only advances our understanding of various health conditions but also paves the way for innovative treatments that can transform lives.
Stay tuned for more updates and breakthroughs from Dr. Yokota's lab!
Yokota Lab Celebrates Harry Wilton-Clark's Prestigious CHF Alliance Trainee Award
Yokota Lab Celebrates Harry Wilton-Clark's Prestigious CHF Alliance Trainee Award
July 9, 2024
We are thrilled to announce that Harry Wilton-Clark, a PhD student in our lab, has been awarded the highly esteemed CHF Alliance Trainee Award! This prestigious recognition comes with a $20,000 grant to support his groundbreaking research.
Harry's work at the Yokota Lab focuses on advancing therapeutic strategies for neuromuscular disorders. His dedication, innovation, and hard work have set him apart in the competitive field of medical genetics, earning him this well-deserved accolade.
The CHF Alliance Trainee Award is part of the CHF Alliance's second Trainee Awards Competition, which received numerous high-quality applications. Harry is one of only five awardees selected for this year, a testament to the exceptional caliber of his research and potential impact on the field.
The CHF Alliance supports a variety of events and initiatives, including face-to-face meetings, webinars, conferences, and educational competitions.
New Publication: Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges
New Publication: Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges
July 2, 2024
We are excited to announce that our latest review article, "Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges," is now available online on Preprints.org. The article has been assigned the preprint ID: preprints-110650 and can be accessed through the following link.
Highlights of the Review:
Comprehensive Overview: The review provides an in-depth analysis of the current advancements in gene-targeting therapies for Spinal Muscular Atrophy (SMA), a severe neurodegenerative disease that primarily affects motor neurons.
Innovative Therapies: We discuss the various therapeutic approaches, including antisense oligonucleotides (ASOs), gene therapy, and small molecule treatments, highlighting the progress and challenges associated with each method.
Future Directions: The review also explores potential future directions in SMA research, aiming to provide a roadmap for developing more effective and targeted therapies.
Key Takeaways:
Gene Therapy: Analyzes the success of onasemnogene abeparvovec (Zolgensma) and its impact on SMA treatment paradigms.
ASOs: Discusses the clinical applications and ongoing developments of nusinersen (Spinraza) and other emerging ASO-based treatments.
Small Molecules: Examines the role of risdiplam (Evrysdi) in the treatment landscape and its mechanism of action.
Yokota Lab Takes Center Stage at International FOP Drug Development Forum
28 June, 2024
The University of Alberta's Yokota Laboratory, a leader in genetic research, made a significant impact at this year's Drug Development Forum (DDF) dedicated to Fibrodysplasia Ossificans Progressiva (FOP). The event, held from June 26-28, drew top researchers, clinicians, and industry experts from around the globe to share insights and advances in treating this rare and challenging condition.
Dr. Rika Maruyama from Yokota Lab presented RNA-targeted therapies for FOP during a session focused on RNA Therapeutics and Stem Cell Delivery. Her talk, "Allele-specific antisense oligonucleotides as a therapeutic approach for the treatment of FOP," highlighted the lab's innovative approach to silencing specific genetic mutations without affecting the normal function of genes. This research is particularly promising for developing treatments that are finely tailored to genetic profiles, potentially leading to more effective and safer therapeutic options.
The Yokota Lab's participation in the DDF underscores their role at the forefront of genetic research, particularly in neuromuscular and skeletal disorders. Their work not only advances the understanding of FOP but also opens doors to novel treatment strategies that could one day transform patient care.
In addition to Dr. Maruyama's presentation, the forum featured a range of sessions covering the latest in clinical trials, kinase inhibition strategies, and patient insights, reflecting the multidisciplinary approach necessary to tackle complex genetic disorders like FOP.
Dr. Yokota's Lab Publishes Comprehensive Review on Patient-Customized Antisense Oligonucleotide Therapy
Dr. Yokota's Lab Publishes Comprehensive Review on Patient-Customized Antisense Oligonucleotide Therapy
Edmonton, AB, June 21, 2024 – Dr. Toshifumi Yokota's team at the University of Alberta have made a significant contribution to the scientific community with their comprehensive review article, "Preparing for Patient-Customized N-of-1 Antisense Oligonucleotide Therapy to Treat Rare Diseases," published in the peer-review journal Genes as part of the Special Issue on Molecular Genetics of Neurodegenerative Diseases and Neuromuscular Diseases.
Overview of the Review Article
This review provides an in-depth analysis of the current state and future prospects of patient-customized antisense oligonucleotide (ASO) therapies, which are specifically designed to target and modify genetic mutations responsible for rare neuromuscular and neurodegenerative disorders.
Key Highlights of the Review
Customization of ASO Therapy: The article elaborates on the methodologies and strategies for designing and developing antisense oligonucleotides tailored to individual patients' genetic profiles. This personalized approach aims to provide effective treatments for rare diseases that currently have limited therapeutic options.
Translational Research: The review emphasizes the importance of translational research in ensuring that laboratory discoveries can be successfully translated into clinical applications. This involves rigorous testing and validation of ASO therapies to ensure their safety and efficacy in clinical settings.
Interdisciplinary Collaboration: The review highlights the necessity of interdisciplinary collaboration, involving experts from various fields such as genetics, molecular biology, and clinical medicine, to drive innovation and progress in developing patient-customized therapies.
Significance and Future Directions
The patient-customized N-of-1 ASO therapy represents a transformative approach to treating rare genetic disorders, offering hope to patients with conditions that were previously deemed untreatable. Dr. Yokota's team is committed to advancing their research in this area, with plans to further explore and refine these personalized therapies. Their work aims to expand the application of ASO therapies to a broader range of genetic disorders, ultimately improving patient outcomes and quality of life.
Access the Review Article
The review article is available online and can be accessed via the following links:
18 June, 2024
Comprehensive Review of ASO-Based Therapies for Duchenne Muscular Dystrophy
Dr. Toshifumi Yokota and lab members, Umme Sabrina Haque and Melissa Kohut, have published a comprehensive review in the journal Current Research in Toxicology titled "Comprehensive review of adverse reactions and toxicology in ASO-based therapies for Duchenne muscular dystrophy: From FDA-approved drugs to peptide-conjugated ASO." This pivotal work, available online from June 18, 2024, provides an extensive overview of the adverse reactions and toxicological profiles of antisense oligonucleotide (ASO) therapies for Duchenne Muscular Dystrophy (DMD).
Key Highlights
Key Highlights
Understanding DMD and the Role of ASOs Duchenne Muscular Dystrophy is a severe genetic disorder characterized by progressive muscle degeneration due to mutations in the dystrophin gene. ASOs have emerged as a promising therapeutic strategy, with the FDA conditionally approving four ASO therapies aimed at exon skipping to restore dystrophin production.
Peptide-Conjugated ASOs (PPMOs) The review discusses the development of peptide-conjugated phosphorodiamidate morpholino oligomers (PPMOs), which enhance the pharmacokinetic profiles of ASO therapies. These PPMOs show potential for improved therapeutic efficacy, though they also raise new safety concerns.
Adverse Reactions and Toxicology The publication meticulously details the adverse reactions and toxicological data from clinical trials of FDA-approved ASO drugs such as eteplirsen, golodirsen, viltolarsen, and casimersen. Common adverse reactions include headaches, respiratory infections, and renal toxicity. The review highlights the necessity of larger clinical trials and comprehensive risk assessments to better understand these therapies' safety profiles.
Comparative Analysis with Other Treatments ASO-based therapies are compared with other treatment approaches for DMD, including gene therapy and glucocorticoids. While ASOs offer a targeted approach with a favourable safety profile, the review underscores the importance of continued research to optimize these therapies and address their limitations.
Future Directions The review calls for further studies to elucidate the molecular mechanisms behind ASO-induced toxicity and develop strategies to mitigate these risks. Expanding clinical trial populations and incorporating real-world data will be crucial in refining the safety and efficacy of ASO therapies.
Breakthroughs in Muscular Dystrophy Conference: Dr. Toshifumi Yokota to Present on RNA-Targeted Therapies
Breakthroughs in Muscular Dystrophy Conference: Dr. Toshifumi Yokota to Present on RNA-Targeted Therapies
7 June, 2024
We are thrilled to announce that Dr. Toshifumi Yokota will be presenting at the upcoming Breakthroughs in Muscular Dystrophy conference. This prestigious event is co-hosted by the American Society of Gene & Cell Therapy (ASGCT) and the Muscular Dystrophy Association (MDA) and will take place on November 19-20, 2024, at The Westin Michigan Avenue in Chicago, IL. The conference will also be accessible virtually, offering a global audience the opportunity to participate in this important gathering.
The conference is set to feature the latest advancements in gene and cell therapies for muscular dystrophy, providing an unparalleled platform for researchers, clinicians, and industry professionals to share their findings and collaborate on future innovations.
Dr. Yokota will delve into the cutting-edge developments in RNA-targeted therapies, highlighting the significant strides made in treating muscular dystrophy through advanced genetic approaches. This session will also feature other prominent speakers, including Dr. Lindsay Wallace from Nationwide Children's Research Institute and Dr. Aurelie Goyenvalle from the University of Versailles Saint Quentin En Yvelines, who will discuss RNAi-based gene therapies for dominant neuromuscular disorders and ASOs for CNS delivery, respectively.
For more information and to stay updated on the event, visit the ASGCT website and follow the official conference hashtags #BreakthroughsInMuscularDystrophy, #MuscularDystrophy, #GeneTherapy, and #CellTherapy on social media.
We look forward to seeing you in Chicago or virtually as we continue to make significant strides in the fight against muscular dystrophy.
4 June 2024
New Publication Alert: Review on Cell-Penetrating Peptide-Conjugated Antisense Oligonucleotides for SMA Treatment
We are excited to announce that Dr. Toshifumi Yokota's research team at the University of Alberta has published a comprehensive review article in the journal Molecules. The article, titled "Potential of Cell-Penetrating Peptide-Conjugated Antisense Oligonucleotides for the Treatment of SMA," provides an in-depth analysis of the current state and future prospects of using cell-penetrating peptides (CPPs) to enhance antisense oligonucleotide (ASO) therapies for spinal muscular atrophy (SMA).
Published as part of the Special Issue "Cell-Penetrating Peptides: A Promising Tool for Drug Delivery," this review highlights the potential of CPP-conjugated ASOs to improve drug delivery efficiency and therapeutic outcomes for SMA patients.
Key Highlights:
Title: Potential of Cell-Penetrating Peptide-Conjugated Antisense Oligonucleotides for the Treatment of SMA
Journal: Molecules
Special Issue: Cell-Penetrating Peptides: A Promising Tool for Drug Delivery
This review article explores the development and therapeutic potential of CPP-conjugated ASOs for SMA treatment. It discusses the mechanisms by which CPPs enhance the cellular uptake of ASOs, reviews recent advancements in the field, and evaluates the prospects for translating these findings into clinical practice.
Dr. Yokota's Lab Receives Prestigious NFRF Award for Groundbreaking Research on Indigenous Neuromuscular Disorders
Dr. Yokota's Lab Receives Prestigious NFRF Award for Groundbreaking Research on Indigenous Neuromuscular Disorders
Edmonton, AB, June 3, 2024 – Dr. Toshifumi Yokota's team at the University of Alberta has been awarded a $250,000 grant from the New Frontiers in Research Fund (NFRF) for their innovative project titled "Indigenous Ways of Knowing Spinal Bulbar Muscular Atrophy and Directing Translational Research."
The research project aims to address the high prevalence of spinal bulbar muscular atrophy (SBMA) among the Cree, Saulteaux, and Métis Nations in Canada. SBMA is an inherited neuromuscular disorder that leads to muscle weakness and atrophy. The team’s early investigations suggest that the high prevalence of SBMA among these Indigenous populations is a consequence of historical events, such as the genetic bottleneck caused by repeated epidemics during the colonial period.
Aims of the Project
Aims of the Project
Community Engagement and Ethical Participation:
The project will employ qualitative and Indigenous research methods to establish research priorities from the perspectives of Indigenous communities affected by SBMA. This aim will ensure that any future clinical trials are conducted in a culturally safe and ethical manner.
Translational Research:
The team will work on developing biomarkers and potential therapies for SBMA. This includes exploring CRISPR activation to bypass the disease mutation and identifying biomarkers correlated to disease states and therapy response. The research will involve continuous feedback from those with lived experiences of SBMA.
Collaborative Efforts
Collaborative Efforts
This interdisciplinary project is a collaborative effort involving experts in Indigenous health, population sciences, clinical neurology, genetics, and translational science. Key collaborators include Dr. Alexandra King, Dr. Rita Henderson, Dr. Kerri Schellenberg, and Dr. Gerald Pfeffer. The research team also partners with Indigenous people affected by SBMA, who have formed a Community Guiding Circle, and a Saulteaux Knowledge Holder from one of the affected communities.
Significance of the Award
Significance of the Award
The NFRF award is a recognition of the high-risk, high-reward, and interdisciplinary nature of Dr. Yokota's research. The funding will accelerate the development of effective therapies for SBMA while ensuring that the research process respects and incorporates Indigenous knowledge and cultural practices.
About the New Frontiers in Research Fund
About the New Frontiers in Research Fund
The New Frontiers in Research Fund supports transformative and innovative research that addresses complex challenges in interdisciplinary and international contexts. This prestigious award underscores the potential impact and innovative approach of Dr. Yokota's project.
31 May, 2024
31 May, 2024
Exciting Funding Success in 2024 URI and Alberta Innovates Competitions
Exciting Funding Success in 2024 URI and Alberta Innovates Competitions
We are thrilled to announce that several research projects from Dr. Toshifumi (Toshi) Yokota's lab have received prestigious funding through the 2024 URI and Alberta Innovates competitions. This remarkable achievement highlights the dedication and innovative spirit of our talented students and the impactful research being conducted in our lab.
Funded Projects and Students
Optimizing Cocktails of DNA-like Molecules for Duchenne Muscular Dystrophy Treatment in Cell and Mouse Models
Student: Brooklynn Powell
Award: URI Stipend
Description: This project focuses on enhancing treatments for Duchenne muscular dystrophy (DMD) by optimizing combinations of DNA-like molecules to improve efficacy in both cell and mouse models.
Enhancing Spinal Muscular Atrophy Treatments with Novel ASO Delivery Systems
Student: Jillian Claerhout
Award: URI Stipend
Description: Jillian's research aims to improve treatments for spinal muscular atrophy (SMA) through the development of innovative delivery systems for antisense oligonucleotides (ASO).
Advancing Exon Skipping Therapy for N-terminal Duchenne Muscular Dystrophy
Student: Antonio Sebastian Hernandez Rodriguez
Award: Alberta Innovates Summer Research Studentship
Description: This project seeks to advance exon skipping therapies specifically targeting the N-terminal region of the dystrophin gene, offering new hope for DMD patients.
Antisense Oligonucleotide Mediated Exon Skipping as a Therapeutic Approach for Giant Axonal Neuropathy
Student: Randy Allen
Award: Alberta Innovates Summer Research Studentship
Description: Randy's work focuses on developing antisense oligonucleotide therapies to treat Giant Axonal Neuropathy, a rare genetic disorder affecting the nervous system.
Acknowledgments
We extend our heartfelt thanks to the University of Alberta Undergraduate Research Initiative (URI) and Alberta Innovates for their continued support and for recognizing the potential of our research projects. Their funding not only enables us to pursue cutting-edge research but also helps in nurturing the next generation of scientists dedicated to finding cures for devastating diseases like DMD and SMA.
Looking Ahead
These funded projects represent significant steps forward in our mission to develop novel therapies for neuromuscular diseases. We are excited about the potential impact of this research and remain committed to advancing our understanding and treatment of these conditions.
Congratulations to Brooklynn Powell, Jillian Claerhout, Antonio Sebastian Hernandez Rodriguez, and Randy Allen for their exceptional work. We look forward to sharing their progress and breakthroughs in the coming months.
Stay tuned for more updates from the Yokota lab as we continue to push the boundaries of genetic and molecular research.
31 May, 2024
Breakthroughs in Treating Fibrodysplasia Ossificans Progressiva (FOP): Insights from Dr. Yokota
We are thrilled to share the latest developments in the treatment of fibrodysplasia ossificans progressiva (FOP), as featured in a recent article by Science Magazine. This rare and debilitating genetic condition, which causes the bone to form in muscles, tendons, and ligaments, is seeing unprecedented advancements in therapeutic options. Dr. Toshifumi Yokota, a leading researcher in the field and Professor at the University of Alberta, was honoured to be featured in this significant article.
The Landscape of FOP Treatments
Fibrodysplasia ossificans progressiva affects approximately 8,000 people worldwide, leading to severe pain, disability, and a drastically shortened lifespan. Historically, rare diseases like FOP have struggled to attract the attention of drug developers. However, the landscape is changing with at least 13 companies now actively pursuing therapies for FOP.
The U.S. Food and Drug Administration (FDA) recently approved palovarotene, the first drug specifically targeting FOP. This groundbreaking treatment has shown promise in reducing new bone formation in affected individuals. Additionally, four other drugs are currently in clinical trials, offering hope for more effective and comprehensive treatment options.
Dr. Yokota's Contributions
Dr. Yokota, whose expertise in medical genetics and rare disease research is widely recognized, provided valuable insights into the challenges and opportunities associated with developing treatments for FOP. Their work with oligonucleotides, which are short strands of RNA or DNA, aims to inhibit the defective proteins responsible for the disease more selectively. This approach could potentially offer a more targeted and safer treatment option compared to existing therapies.
Hope for the Future
The progress in FOP treatment is not just about managing symptoms but also about improving the quality of life for patients. Researchers, including Dr. Yokota, are optimistic that these advancements could eventually transform FOP from a catastrophic disease into a manageable condition. The ultimate goal is to prevent the reformation of bone after surgical removal, significantly enhancing patient outcomes.
University of Alberta's Dr. Toshifumi Yokota and Lab Achieve Top Rankings in Muscular Dystrophy Research
University of Alberta's Dr. Toshifumi Yokota and Lab Achieve Top Rankings in Muscular Dystrophy Research
Edmonton, Alberta – 21 May 2024
The University of Alberta's Dr. Toshifumi Yokota and the research team have been recognized among the top scholars in the field of muscular dystrophy research by ScholarGPS. This prestigious recognition highlights the lab's significant contributions and the impactful work being conducted at the University of Alberta.
Dr. Yokota, a professor in the Department of Medical Genetics and the holder of The Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair, has been instrumental in advancing research in muscular dystrophy. The lab's innovative approaches and dedication to improving treatments for this debilitating condition have earned a prominent position in the latest ScholarGPS rankings.
Excellence in Muscular Dystrophy Research
Excellence in Muscular Dystrophy Research
According to the ScholarGPS rankings, Dr. Yokota's lab is placed second in the world (Top 0.01%) for contributions to muscular dystrophy research over the past five years. This recognition is based on the number of publications, citations, and the overall impact of the work in the scientific community. The research focuses on developing therapeutic strategies, including antisense oligonucleotide therapy and genome editing, to treat muscular dystrophy and other neuromuscular diseases.
"We are honoured to be recognized among the top scholars in muscular dystrophy research," said Dr. Yokota. "This achievement is a testament to the hard work and dedication of the incredible team. We are committed to advancing our understanding of muscular dystrophy and developing effective treatments to improve the lives of patients affected by this condition."
Advancing Personalized Medicine
Advancing Personalized Medicine
In addition to recognition in muscular dystrophy research, Dr. Yokota's lab has also been ranked fourth (Top 0.02%) in the field of personalized medicine. The work in this area focuses on tailoring medical treatments to individual patients based on their genetic makeup, providing more effective and targeted therapies.
"Our goal is to transform genetic discoveries into therapies that can make a real difference in patients' lives," said Dr. Yokota. "By advancing personalized medicine, we aim to develop treatments that are not only effective but also customized to the unique needs of each patient."
University of Alberta's Global Ranking
University of Alberta's Global Ranking
The University of Alberta itself has also earned a distinguished place in the global academic community, consistently ranked among the top universities worldwide. This recognition reflects the university's commitment to excellence in research, education, and innovation. The institution's supportive environment and state-of-the-art facilities enable researchers like Dr. Yokota and the team to make groundbreaking advancements in their fields.
Future Directions
Future Directions
Looking ahead, Dr. Yokota and the team are excited about the potential of ongoing research projects. The exploration of new frontiers in genetic therapy and dedication to driving innovation in the field continue. The commitment to excellence and collaboration with other leading researchers worldwide positions the lab at the forefront of scientific advancements in muscular dystrophy and personalized medicine.
The recognition from ScholarGPS underscores the University of Alberta's reputation as a leading institution for medical research. It also highlights the impactful work being done by Dr. Yokota's lab, which continues to push the boundaries of scientific knowledge and improve patient outcomes.
17 May 2024
17 May 2024
Yokota Lab Celebrates Saeed Anwar's Outstanding Poster Award at ASGCT 2024
Yokota Lab Celebrates Saeed Anwar's Outstanding Poster Award at ASGCT 2024
The Yokota Lab is thrilled to announce that Saeed Anwar, one of our talented researchers, has been honoured with an Outstanding Poster Award at the prestigious American Society of Gene and Cell Therapy (ASGCT) 2024 Annual Meeting. Saeed's remarkable work on "Enhancing Antisense Oligonucleotide Efficacy with Small Molecule Oligonucleotide Activity Enhancers" earned him this well-deserved recognition.
This year's ASGCT conference, held from May 14-17, showcased groundbreaking research and innovations in the field of gene and cell therapy. The event featured an impressive array of presentations, with over 1,000 participants voting to determine the winners of the Outstanding Poster Awards.
Saeed's poster, numbered 723, highlights his significant contributions to the advancement of antisense oligonucleotide (ASO) therapy. His research focuses on the development of small molecule enhancers that can significantly improve the efficacy of ASO treatments, potentially revolutionizing therapeutic approaches for various genetic disorders.
The Yokota Lab extends heartfelt congratulations to Saeed and all the other winners for their outstanding contributions to the field. We look forward to continuing our efforts in pushing the boundaries of gene and cell therapy research.
8 May 2024
Yokota Lab Celebrates OligomicsTx's Achievement in Securing Edmonton Edge Fund Support
In a significant boost for local biotechnology innovation, OligomicsTx, a spin-off from the Yokota Lab at the University of Alberta, has been awarded $100,000 by the Edmonton Edge Fund. This funding will propel the preclinical development of a novel treatment for Facioscapulohumeral Muscular Dystrophy (FSHD), marking a crucial step forward in combating this rare neuromuscular disorder.
FSHD, which affects approximately 1 in 8,000 people globally, leads to progressive skeletal muscle loss that initially appears in the face, shoulders, and upper arms. Despite its prevalence, no effective treatments are currently available on the market, making this research potentially transformative for patients worldwide.
The funding will facilitate critical preclinical studies, setting the stage for future clinical trials. These studies are vital for ensuring the safety and efficacy of the new genetic treatments developed by OligomicsTx, which specialize in targeting RNA to correct genetic abnormalities underlying muscular dystrophies.
The Edmonton Edge Fund aims to reduce financial barriers for innovative enterprises within the city, focusing on those poised to make significant economic or social impacts. This initiative is part of a broader strategy to foster a thriving business ecosystem in Edmonton, capable of driving technological and economic growth across various sectors.
7 May 2024
WCHRI Summer Studentship Awarded to Sarah Hay for Innovative Treatment Research
WCHRI Summer Studentship Awarded to Sarah Hay for Innovative Treatment Research
The Yokota Lab at the University of Alberta is proud to announce that our talented student, Sarah Hay, has been awarded the prestigious Summer Studentship by the Women and Children’s Health Research Institute (WCHRI). This award is made possible through the generous support of the Stollery Children’s Hospital Foundation (SCHF) and reflects the commitment of our community to advancing medical research and treatment options for young patients.
Sarah’s project for the summer will focus on developing innovative treatments for Fibrodysplasia Ossificans Progressiva (FOP), a rare and debilitating disorder. FOP causes bone to form in muscles, tendons, ligaments, and other connective tissues, leading to permanent immobility in affected individuals. By exploring new therapeutic approaches, Sarah aims to contribute significantly to the global efforts in treating this challenging condition.
Yokota Lab Highlights Success of OligomicsTx at the 2024 YEG Startup Community Awards
Yokota Lab Highlights Success of OligomicsTx at the 2024 YEG Startup Community Awards
Date: May 2, 2024
Last night, the Edmonton startup community came together to celebrate its achievements at the 2024 YEG Startup Community Awards. The event, which recognizes innovation and entrepreneurship in our region, was especially significant for us at Yokota Lab due to the nomination of OligomicsTx in the "New Startup of the Year" category. Dr. Toshifumi Yokota, co-founder and Chief Scientific Officer (CSO) of OligomicsTx, represents a perfect blend of academia and industry, driving forward both our research and the broader biotech sector.
OligomicsTx: Pioneering Genetic Solutions
Founded by Dr. Yokota and a team of experts, OligomicsTx has quickly become a beacon of innovation in genetic therapies. The startup focuses on developing precise genetic interventions to treat a variety of serious genetic disorders, using cutting-edge research developed in Yokota Lab. The nomination of OligomicsTx at the YEG Startup Community Awards is a testament to the impactful work being done by the team in pushing the boundaries of medical science.
Dr. Yokota's Dual Impact
As the co-founder and CSO of OligomicsTx, Dr. Yokota brings extensive research expertise to the commercial sphere, ensuring that the bridge between laboratory research and real-world application is not only crossed but fortified. Yokota Lab and OligomicsTx exemplify the synergy between academic research and entrepreneurial spirit, underscoring the lab's commitment to practical and transformative healthcare solutions.
Looking Forward
This recognition of OligomicsTx at the YEG Startup Community Awards is just the beginning. As we continue to innovate at Yokota Lab and through OligomicsTx, our focus remains on creating therapies that can significantly improve the quality of life for patients around the world. We are excited about the future and eager to continue our contributions to both the scientific community and the healthcare industry.
Stay Connected
To learn more about the ongoing projects at Yokota Lab and our exciting advancements at OligomicsTx, follow us on our website Yokota Lab and stay tuned for more updates.
Congratulations to all the nominees and winners at the 2024 YEG Startup Community Awards. Your hard work and dedication inspire us all!
Yokota Lab Presents at Calgary FSHD 360 Meeting
Yokota Lab Presents at Calgary FSHD 360 Meeting
April 7, 2024
The Yokota Lab, led by Dr. Toshifumi Yokota at the University of Alberta, recently participated in the Calgary FSHD 360 meeting held on March 16, 2024. This event, organized by the FSHD Society and the FSHD Canada Foundation, brought together experts and community members to discuss the latest advancements in facioscapulohumeral muscular dystrophy (FSHD) research and patient care.
Dr. Toshifumi Yokota delivered a key presentation on "Advancing Oligonucleotide-Based Therapies for FSHD." This session highlighted the innovative work being done at the Yokota Lab to develop and optimize oligonucleotide-based treatments for FSHD, a genetic muscle disorder. Dr. Yokota's research aims to improve therapeutic strategies and outcomes for patients suffering from this debilitating condition.
The meeting covered a range of topics, including:
Welcome and Overview: Beth Johnston from the FSHD Society and Neil Camarta from the FSHD Canada Foundation provided an introduction to the 360 meetings and the Clinical Trial Research Network (CTRN).
FSHD 101 and Overview: Dr. Lawrence Korngut from the University of Calgary gave an introductory session on FSHD.
FSHD Genetics and Genetic Counseling: Dr. Gerald Pfeffer from the University of Calgary discussed the genetic basis of FSHD and the importance of genetic counselling.
Physiatry in Managing Symptoms: Dr. Stephanie Plamondon from the University of Calgary shared insights on the role of physiatry in symptom management for FSHD patients.
Impacting Patient Outcomes Using Real-World Evidence: Katie Henley from the Canadian Neuromuscular Disease Registry presented on how real-world data can enhance patient care.
FSHD: A Pediatric Perspective: Dr. Jean Mah from the Cummings School of Medicine provided a perspective on FSHD in pediatric patients.
Drug Development and Trial Readiness: Dr. Gerald Pfeffer and Dr. Lawrence Korngut discussed the current landscape of drug development and trial readiness for FSHD.
Time is Muscle! Canada and Project Mercury: Neil Camarta from the FSHD Canada Foundation emphasized the urgency of research and intervention with the "Time is Muscle!" initiative.
Activating the Local Community: Karen and Jennie Camarta from the Alberta chapter talked about local community engagement and support for FSHD patients and families.
The Calgary FSHD 360 meeting showcased the collaborative efforts of researchers, clinicians, and patient advocates dedicated to improving the lives of those affected by FSHD. The Yokota Lab is proud to contribute to this vital cause and remains committed to advancing therapeutic solutions for muscular dystrophy.
15 March 2024
OligomicsTx Clinches $155,000 at Startup TNT Life Sciences Summit Finale
OligomicsTx Clinches $155,000 at Startup TNT Life Sciences Summit Finale
Edmonton, Alberta, March 15, 2024 — OligomicsTx, a pioneering biotech startup co-founded by University of Alberta Professor Toshifumi (Toshi) Yokota, has been awarded a significant investment of $155,000 by angel investors at the highly competitive Startup TNT Life Sciences Summit Finale. The event, which spotlighted innovation within the life sciences sector, was held on March 14 in Edmonton at the Alberta Machine Intelligence Institute.
OligomicsTx, dedicated to developing groundbreaking RNA-targeting therapies for rare neuromuscular disorders, emerged victorious against a strong lineup of contenders, including PulmVita, MACH32, Qualisure Diagnostics, Wave View Imaging, and Difinity Solutions. The company's focus on leveraging advanced genetic research to create impactful treatments underscored the event's emphasis on supporting ventures with the potential to revolutionize healthcare.
"I am deeply honored to receive this recognition and investment," said Dr. Yokota, reflecting on the win. "This achievement is a testament to the hard work and dedication of our team at OligomicsTx and the University of Alberta. We are committed to advancing our research and bringing new therapies to patients who need them most."
The summit not only highlighted OligomicsTx’s innovative approach to treating neuromuscular disorders but also facilitated valuable connections with investors interested in propelling the life sciences ecosystem forward. Side deals with PulmVita and Qualisure, though undisclosed, were also celebrated, showcasing the event's role in fostering a vibrant investment landscape for life sciences startups.
The OligomicsTx team extends its gratitude to Startup TNT, the angel investors, and all participants for their support and confidence in the company’s mission. With this investment, OligomicsTx is poised to accelerate its research and development efforts, inching closer to realizing its vision of transforming the lives of individuals affected by rare genetic conditions.
As OligomicsTx continues on its path of innovation and discovery, it remains dedicated to collaborating with researchers, healthcare professionals, and the broader community to tackle the challenges facing rare disease treatment today.
About OligomicsTx
OligomicsTx is a biotechnology company co-founded by Dr. Toshifumi Yokota, Professor of Medical Genetics at the University of Alberta. The company is at the forefront of developing RNA-targeting therapies aimed at treating rare neuromuscular disorders. Leveraging cutting-edge research and technology, OligomicsTx aspires to bring innovative and effective treatments to patients worldwide.
About Startup TNT
Startup TNT (Thursday Night Tradition) is an initiative aimed at fostering connections among startups, investors, and the broader community to support and grow the local innovation ecosystem. Through its investment summits and other activities, Startup TNT aims to facilitate funding and mentorship opportunities for emerging companies in the technology and life sciences sectors.
18 October, 2023
Yokota Lab Celebrates Achievements at WCHRI Research Day
The Yokota Lab at the University of Alberta is delighted to announce the outstanding achievements of its members, Ahad and Abdullah, who received top honors for their oral presentations at the recent WCHRI Research Day. Their innovative research on Duchenne Muscular Dystrophy (DMD) and Facioscapulohumeral Muscular Dystrophy (FSHD) has garnered significant recognition, highlighting the lab's commitment to advancing therapies for these challenging conditions.
Ahad’s Award-Winning Research on DMD
Ahad Shah's presentation focused on groundbreaking work in the field of Duchenne Muscular Dystrophy, a severe genetic disorder characterized by progressive muscle degeneration and weakness. His research delves into novel therapeutic approaches aimed at mitigating the debilitating effects of DMD, offering new hope for patients and their families. The recognition of his work at WCHRI Research Day underscores the importance and potential impact of his findings.
Abdullah’s Pioneering Study on FSHD
Abdullah's award-winning presentation centered on Facioscapulohumeral Muscular Dystrophy, a genetic muscle disorder that affects the muscles of the face, shoulder blades, and upper arms. His research explores innovative strategies to address the underlying genetic causes of FSHD, aiming to develop effective treatments that can improve the quality of life for those affected by this condition. The accolade received by Abdullah highlights the significance of his contributions to the field.
WCHRI Research Day: A Platform for Innovation
WCHRI Research Day is an annual event that provides a dynamic environment for trainees to showcase their research in children’s and women’s health. The event is judged by the WCHRI Research Day Judging Committee, with outcomes based on the relevance of the research to WCHRI's mission and the quality of the presentations. The ongoing support of the Stollery Children's Hospital Foundation (SCHF) and the Alberta Women's Health Foundation (AWHF) makes such platforms possible.
Advancing Therapies for Neuromuscular Diseases
The Yokota Lab continues to push the boundaries of genetic research, developing innovative therapies to combat muscular dystrophy and other rare diseases. The accolades received by Ahad and Abdullah at WCHRI Research Day highlight the lab’s commitment to excellence and its significant contributions to the scientific community.
20 September 2023
Toshifumi Yokota elected 2023 Fellow of the Canadian Academy of Health Sciences
Toshifumi Yokota elected 2023 Fellow of the Canadian Academy of Health Sciences
U of A professor shapes the future of genetic treatments and inclusivity in research
Toshifumi (Toshi) Yokota, a professor of medical genetics in the Faculty of Medicine & Dentistry, has been elected as a 2023 Fellow of the Canadian Academy of Health Sciences (CAHS).
Fellowship in the CAHS is considered one of the highest honours within Canada’s academic community. Fellows, who serve as unpaid volunteers, are nominated by their institutions and peers and selected in a competitive process based on their internationally recognized leadership, academic performance, scientific creativity and willingness to serve.
The CAHS brings together Canada’s top-ranked health and biomedical scientists and scholars to make a positive impact on the health of Canadians.
Yokota is also the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair.
Yokota’s research focuses on understanding and developing treatments for muscular dystrophy and other genetic disorders. His group’s pioneering research has led to significant advancements in the treatment of muscular dystrophy.
Toshifumi Yokota is a member of the Women and Children’s Health Research Institute.
12 July 2023
Enhancing Canadian Neuromuscular Research and Care: NMD4C Secures 5-Year Grant from CIHR-IMHA with Additional Support from MDC
In a significant advancement for neuromuscular disease research in Canada, Dr. Toshifumi Yokota's lab, along with collaborators, has been awarded a prestigious Canadian Institutes of Health Research (CIHR) Network Grant focused on Muscular Dystrophy. This grant, part of a broader initiative that also includes Skin Health and Bone Health, allocates $200,000 CAD to the Neuromuscular Disease Network for Canada (NMD4C) for the period from July 1, 2023, to June 30, 2028.
NMD4C aims to consolidate the efforts of Canada's leading experts in neuromuscular diseases to address and surmount the current and emerging challenges in the field. As a Co-applicant, Dr. Yokota's involvement in this project underscores the pivotal role of the lab in advancing research and therapy development for muscular dystrophy and related neuromuscular disorders.
Driving Forward Muscular Dystrophy Research
The funding will enable NMD4C to further its mission to improve care, enhance research collaborations, and expedite the development of therapies for neuromuscular diseases across Canada. By fostering a collaborative network that includes clinicians, scientists, patients, and patient advocacy groups, NMD4C ensures a comprehensive approach to tackling the complexities of muscular dystrophy.
Dr. Yokota's lab, renowned for its groundbreaking work in genetic therapies, will contribute its expertise to the network's objectives. This includes developing innovative treatment strategies, improving diagnostic tools, and enhancing the understanding of the genetic and molecular mechanisms underlying neuromuscular diseases.
A Collaborative Effort Towards a Common Goal
The CIHR Network Grant recognizes the importance of interdisciplinary collaboration in driving scientific breakthroughs and improving patient outcomes. Dr. Yokota and colleagues will work closely with network partners to share knowledge, resources, and technologies. This collaborative effort aims to accelerate the pace of discovery and the translation of research findings into clinical practice.
Implications for Patients and the Future of NMD Research
The grant not only represents a significant investment in neuromuscular disease research but also signals hope for patients and families affected by muscular dystrophy. Through the concerted efforts of NMD4C, patients across Canada can look forward to advancements in care and access to cutting-edge therapies.
Dr. Yokota expressed enthusiasm for the project: "We are honored to receive this CIHR Network Grant and excited about the potential impact of our collective efforts. By working together, we can make significant strides in understanding and treating muscular dystrophy, ultimately improving the lives of those affected by these challenging conditions."
For more information about Dr. Yokota's lab and its contributions to neuromuscular disease research, please visit Dr. Yokota's lab website.
• 12 July 2023
Personalized Medicine for Rare Genetic Diseases
An interview with Dr. Toshi Yokota, a medical genetics professor at the University of Alberta, highlights the potential of personalized medicine in the treatment of rare genetic diseases. In this interview, Dr. Yokota discusses the development of custom gene therapies, inspired by the success of drugs like milasen and atipeksen, which were designed specifically for individuals with rare genetic disorders. This interview sheds light on the innovative approaches and challenges in the field of personalized medicine, offering hope for millions of people worldwide living with rare diseases. Read the full interview to explore the transformative potential of tailored therapies and the future of personalized medicine.
25 June 2023
Pioneering Research Boosts Accuracy and Efficiency in Predicting Antisense Oligonucleotide Efficacy for Exon Skipping
Pioneering Research Boosts Accuracy and Efficiency in Predicting Antisense Oligonucleotide Efficacy for Exon Skipping
A ground-breaking research paper titled "Ensemble-Learning and Feature Selection Techniques for Enhanced Antisense Oligonucleotide Efficacy Prediction in Exon Skipping" was recently published in the Pharmaceutics journal. The paper is a collaboration among a distinguished group of researchers led by Toshifumi Yokota from the University of Alberta, Alex Zhu from Phillips Academy, Shuntaro Chiba and Yuki Shimizu from RIKEN Center for Computational Science, Katsuhiko Kunitake and Yoshitsugu Aoki from National Institute of Neuroscience, and Yasushi Okuno from Kyoto University.
Antisense oligonucleotide (ASO)-mediated exon skipping is a vital tool in gene therapy and gene function investigation. The current computational methods, like eSkip-Finder, predict the efficacy of ASOs in exon skipping using machine learning. However, these methods have challenges in computational demand and accuracy.
To address these issues, the team proposed a novel approach combining feature selection within machine-learning algorithms and ensemble-learning techniques. This novel approach substantially reduces computation time while enhancing prediction performance. It was thoroughly evaluated using a dataset of experimentally validated exon-skipping events.
The team used a three-way-voting approach with random forest, gradient boosting, and XGBoost algorithms to significantly reduce computation time to under ten seconds. This significant reduction in time did not compromise the results, as the prediction performance improved as per the measured R2 for 2'-O-methyl nucleotides (2OMe) and phosphorodiamidate morpholino oligomers (PMOs).
The study's findings suggest a potential enhancement in predicting ASO efficacy via exon skipping. The feature importance ranking derived from this approach also aligns well with previously published results. As a result, the development of novel therapeutic strategies could be facilitated, potentially contributing to the ongoing efforts to optimize ASO design and gene therapy approaches.
This research lays a solid foundation for the broader implementation of exon skipping in therapeutic applications, offering hope for personalized medicine, n-of-1 therapy, splice switching, and tackling genetic diseases.
Edmonton, 9 June 2023
Edmonton, 9 June 2023
Research Reveals New Understanding of Cancer Cachexia Mechanisms
Research Reveals New Understanding of Cancer Cachexia Mechanisms
A new study published in The Journal of Immunology has brought forth groundbreaking insights into the mechanisms driving cancer cachexia, a severe wasting syndrome that leads to significant weight loss, particularly muscle mass, in cancer patients.
A team of leading researchers, including Kasia Dzierlega, Mainak Chakraborty, Toshifumi Yokota, and others, discovered a critical role for polymorphonuclear myeloid-derived suppressor cells (PMN-MDSCs) in the development of cachexia.
The researchers observed a significant increase in PMN-MDSCs in the cardiac and skeletal muscles of cachectic murine models. Importantly, depletion of this cell subset using anti-Ly6G Abs noticeably reduced the severity of cachexia, pointing to their crucial role in this syndrome.
The team explored various potential mediators such as IL-6, TNF-α, and arginase 1 to understand how PMN-MDSCs contribute to cachexia. However, these factors didn't seem to play a significant role in maintaining PMN-MDSCs or driving muscle loss. Instead, they found that PMN-MDSCs are significant producers of a molecule known as activin A, levels of which were highly elevated in cachectic mice.
Inhibition of the activin A signaling pathway remarkably protected against the muscle loss associated with cachexia. This discovery suggests that PMN-MDSCs are active producers of activin A, contributing to the muscle loss seen in cachexia.
This study represents a significant milestone in cancer research, with the potential to catalyze further investigations into cancer cachexia and its treatment.
31 January 2023
Subcutaneous Treatment with DG9-conjugated Morpholino Shows Promising Results in SMA Mice
Subcutaneous Treatment with DG9-conjugated Morpholino Shows Promising Results in SMA Mice
In a breakthrough study titled "DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration," published on January 31, 2023, researchers demonstrated a promising strategy to treat spinal muscular atrophy (SMA) and potentially other neurological diseases.
The study was conducted by a group of distinguished researchers, including Tejal Aslesh, Jun Ren, Stanley Woo, Simon Gosgnach, John Greer, and Toshifumi Yokota from the University of Alberta.
Antisense oligonucleotide (AO) therapy has shown potential in treating several neurological conditions, including SMA. However, the main challenge lies in limited delivery to the Central Nervous System (CNS) when AOs are administered intravenously or subcutaneously.
In this study, the team demonstrated that a single subcutaneous administration of a cell-penetrating peptide, DG9, conjugated to an AO known as phosphorodiamidate morpholino oligomer (PMO), reached the CNS in SMA mice models. This delivery significantly prolonged the median survival compared with unconjugated PMO and another compound R6G-PMO.
Treatment with DG9-PMO led to a substantial increase in the expression of full-length survival of motor neuron 2 in both the CNS and systemic tissues compared with non-treated and unmodified AO-treated mice. It also ameliorated the atrophic musculature and improved breathing function, muscle strength, and innervation at the neuromuscular junction, without any apparent toxicity signs.
The researchers also discovered that the DG9-conjugated PMO localized in nuclei in the spinal cord and brain after subcutaneous injections, further reinforcing the treatment's potential efficacy.
Consequently, the study identified DG9 peptide conjugation as a highly effective method to enhance the efficacy of AO-mediated splice modulation. The authors conclude that DG9-PMO represents a promising therapeutic option for SMA and other neurological diseases, overcoming the necessity for intrathecal injections and offering a means of treating body-wide tissues without apparent toxicity.
• 22 November 2022
"Muscular Dystrophy Therapeutics: Methods and Protocols" is a new book that was just published on November 19, 2022. It is edited by Rika Maruyama and Toshifumi Yokota and presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering various therapeutic approaches including antisense oligonucleotides, gene replacement, genome editing, small molecules, stem cells, and antibodies. The book is written by leaders in the field and is a part of the highly successful Methods in Molecular Biology series. It is designed to provide readers with introductions to the topics, necessary materials and reagents, step-by-step laboratory protocols, and troubleshooting tips. It is available for purchase on Amazon.com.
Yokota Lab Celebrates Zorica Nakevska’s Best Presentation Award at WCHRI 2022 Research Day
November 2, 2022
The 15th Annual Women and Children’s Health Research Institute (WCHRI) Research Day, held on November 2, 2022, showcased the outstanding research efforts of trainees dedicated to improving children’s and women’s health. Among the many talented presenters, Zorica Nakevska, an undergraduate summer student from Dr. Toshifumi Yokota's lab, made a significant impact and received the Best Presentation Award for her work on enhancing antisense oligonucleotide-mediated therapy for spinal muscular atrophy (SMA).
Nakevska’s presentation, titled "Enhancement of the efficacy of antisense oligonucleotide-mediated therapy for spinal muscular atrophy using oligonucleotide activity enhancer," was recognized in the category of Child Health and Well-being: Genetics. Her innovative research focuses on improving the effectiveness of antisense oligonucleotides, a promising therapeutic approach for treating SMA, a genetic disorder characterized by severe muscle weakness and atrophy.
WCHRI Research Day is an important event that provides a platform for trainees to present their research and engage with peers and experts in the field. The event, supported by the Stollery Children's Hospital Foundation (SCHF) and the Alberta Women's Health Foundation (AWHF), fosters a collaborative environment aimed at advancing health outcomes for women and children.
The Yokota Lab, part of the University of Alberta's Faculty of Medicine and Dentistry, is renowned for its pioneering work in genetic therapies for neuromuscular diseases. The lab's recognition at the WCHRI Research Day underscores its commitment to cutting-edge research and its significant contributions to the scientific community.
Congratulations to Zorica Nakevska for receiving the Best Presentation Award and to all the awardees for their remarkable contributions to women's and children's health research. The Yokota Lab looks forward to continuing its mission of transforming genetic discoveries into effective therapies.
BioAlberta Recognizes Alberta Innovators and Entrepreneurs at Annual Health and Life Sciences Showcase & Awards Ceremony
BioAlberta Recognizes Alberta Innovators and Entrepreneurs at Annual Health and Life Sciences Showcase & Awards Ceremony
September 28, 2022 11:00 AM Eastern Daylight Time
EDMONTON, Alberta--(BUSINESS WIRE)--BioAlberta announced the recipients of its 2022 Achievement Awards in recognition of the outstanding contributions of the individuals and companies whose innovation and achievements have contributed to the growing success of Alberta's life sciences sector. The awards were presented at BioAlberta’s Annual Health and Life Sciences Showcase & Awards Ceremony, held in Calgary on September 27th.
2022 Scientific Achievement and Innovation winner one – Dr. Toshifumi Yokota
“The work in Dr. Toshi’s lab has inspired a multitude of students in the area of medical genetics, collectively producing over 90 publications on their studies…He has since built on his original discovery to create a more powerful treatment with the potential to help over 40% of patients with DMD, which is preventing heart failure in patients with muscular dystrophy,” said Nuzhat Tam Zaman, Co-Founder of Sinoveda/ Co-Chair of the BioAlberta Board of Directors.
Dr. Toshifumi (Toshi) Yokota is a Professor of Medical Genetics at the University of Alberta.
Dr. Yokota's research team designed and tested synthetic DNA-like molecules called gapmers that interfere with the production of a toxic protein that destroys the muscles in facioscapulohumeral muscular dystrophy (FSHD), the third most common form of muscular dystrophy. They demonstrated that this first of a kind treatment knocked down more than 99 percent of the toxic gene products called DUX4 in patient-derived cells accompanied by morphological and functional improvement.
Accepting this award via video, Dr. Toshifumi Yokota said: “Thank you so much for this award, it means so much to me and my team. We started this laboratory 10 years ago and our therapy was FDA approved a couple of years ago. My goal is to boost the potential of this therapy because it not only cures genetic diseases but can also be used in cancer therapy and infectious diseases. I would like to end by saying a big thank you to everyone including my colleagues, partner, and Dr. Rika Yokota-Maruyama.”
About BioAlberta
BioAlberta is the voice and champion for life sciences in Alberta, committed to creating a thriving and competitive industry by facilitating and accelerating economic diversification, investment attraction and job growth.
As a private, not-for-profit industry association, BioAlberta represents more than 230 members of Alberta’s growing life sciences community of researchers, producers and suppliers operating in specialized sectors such as pharmaceuticals, medical devices, natural health products, as well as environmental, agricultural and industrial biotechnology. BioAlberta’s activities are focused on advocacy, promotion and proactively facilitating growth of the industry. Please visit: https://www.bioalberta.com/
Contacts
Contacts
BioAlberta: Robb Stoddard, President and CEO
Tele: 780-425-3815
Email robb@bioalberta.com
1 June, 2022
1 June, 2022
New Treatment Option for Fibrodysplasia Ossificans Progressiva (FOP) Discovered by Researchers
New Treatment Option for Fibrodysplasia Ossificans Progressiva (FOP) Discovered by Researchers
Scientists have developed an innovative approach to treat a rare and currently incurable condition known as Fibrodysplasia Ossificans Progressiva (FOP). The study was published online on June 1, 2022, and was led by researchers including Rika Maruyama, Quynh Nguyen, and Toshifumi Yokota.
FOP is an autosomal dominant disorder characterized by sporadic heterotopic ossification, wherein soft tissues progressively turn into bone. More than 95% of FOP cases are caused by a recurring mutation of Activin A receptor, type I (ACVR1)/Activin receptor-like kinase-2 (ALK2). The mutated ACVR1 receptor responds to activin A, causing heterotopic ossification. The median life span for those with FOP is about 40 years.
The team's strategy for addressing this issue involved creating locked nucleic acid (LNA) gapmers. These are short DNA oligonucleotides with LNA modifications at both ends, which lead to targeted mRNA degradation and specific knockdown of gene expression.
The researchers demonstrated that these gapmers effectively knocked down the expression of the mutated ACVR1 receptor at the RNA level in human FOP fibroblasts. The wild-type ACVR1 receptor, however, was mostly unaffected. The gapmers also suppressed the osteogenic differentiation triggered by the mutated ACVR1 receptor and activin A.
Currently, the various drugs in clinical trials aim to inhibit the signaling pathway in heterotopic ossification but have limitations, including the inability to specifically target the signal from the mutated ACVR1 receptor. The newly developed LNA gapmers have shown promise in addressing this problem by suppressing the activity of the mutated ACVR1 without negatively affecting the activity of the wild-type receptor.
Although these results are preliminary, the scientists are hopeful that LNA gapmers could become viable drug candidates for treating FOP. This study's findings also open the possibility of employing antisense-mediated therapy for other autosomal dominant disorders.
• 25 May, 2022
Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy
Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy
By Zachary Coulson and James J. Dowling
World Muscle Society
Novel Exon-skipping Therapy Mix May Be Able to Treat Over 40% of DMD
Novel Exon-skipping Therapy Mix May Be Able to Treat Over 40% of DMD
by Marisa Wexler MS | May 10, 2022
Muscular Dystrophy News
06 May 2022
RESEARCH
FoMD researchers earn 13 of the U of A’s 15 fall 2021 CIHR project grants
FoMD researchers earn 13 of the U of A’s 15 fall 2021 CIHR project grants
Impressive showing reflects the power of collaboration and partnership, with research institutes playing a key role in supporting and encouraging new heights in health research.
Sasha Roeder Mah
FACULTY OF MEDICINE & DENTISTRY
UNIVERSITY OF ALBERTA
Heart Warriors: ‘Genetics is the future of medicine’ according to U of A researcher, who uses it to help with muscular dystrophy
The project funded by the Heart & Stroke Foundation of Canada aims to help those who experience heart failure while suffering with muscular dystrophy.
By Remi Hou
Published on 30 April 2022
The Gateway
New cocktail drug could benefit up to 45 per cent of patients with Duchenne muscular dystrophy
By Dr Kamal Kant Kohli
29 Apr 2022
A Novel Cocktail Drug Penetrates Heart Muscle and May Treat Nearly Half of All Patients with DMD
A Novel Cocktail Drug Penetrates Heart Muscle and May Treat Nearly Half of All Patients with DMD
by OTS
April 22, 2022
Oligonucleotide Therapeutics Society
8 April 2022
8 April 2022
Groundbreaking Combination Therapy Offers Hope for Duchenne Muscular Dystrophy Patients
Groundbreaking Combination Therapy Offers Hope for Duchenne Muscular Dystrophy Patients
In a notable advance in the fight against Duchenne muscular dystrophy (DMD), a team of international scientists has discovered that combining dietary supplements with existing therapies could provide a more effective treatment for patients suffering from this debilitating disease. The findings of this study, led by Dr. HaiFang Yin, Dr. Toshifumi Yokota, and their team, were published in the scientific journal EMBO Reports on April 8, 2022.
DMD is a progressive muscular disease caused by frame-disrupting mutations in the DMD gene. Although antisense oligonucleotides (AOs) used for exon-skipping have been clinically approved and can correct DMD, their effectiveness is limited due to insufficient muscle delivery.
To overcome this, the team showed that intravenous glycine could enhance the delivery of a type of AO known as phosphorodiamidate morpholino oligomer (PMO) to peripheral muscles in mdx mice, a model for DMD.
Furthermore, the study revealed that combining oral glycine and metformin with intravenous PMO improved PMO activity, boosted dystrophin restoration, extended lifespan, and enhanced body-wide function. This treatment was administered to dystrophin/utrophin double knock-out (DKO) mice, which serve as a severe model of DMD, without causing any overt adverse effects.
Most notably, this combination therapy significantly improved cardio-respiratory and behavioral functions in the DKO mice, without changing the approved administration protocol of PMO.
Metformin and glycine on their own have proven ineffective in DMD patients. However, their combination with PMO could potentially enhance treatment efficacy. Given that both glycine and metformin are already clinically approved, clinical trials to verify their efficacy when combined with PMO could be rapidly undertaken to benefit patients.
While further research is needed, these findings offer a promising avenue for enhancing the treatment of DMD and potentially other muscle diseases that require systemic treatment with AOs.
Huge congratulations to our collaborator Dr. Pieter Cullis for winning the Gairdner Awards! We received an MD_Canada grant together last year to develop antisense oligonucleotide therapy using LNPs for #FSHD.
Apr 6, 2022
New treatment could benefit patients with Duchenne muscular dystrophy
New treatment could benefit patients with Duchenne muscular dystrophy
By Gillian Rutherford on March 5, 2022
Treatment acts like a Band-Aid for mutations, allowing the body to rebuild muscle tissue
Troy Media
Dr. @ToshifumiYokota 's team are testing a promising new drug cocktail for patients with Duchenne muscular dystrophy, a chronic muscle-wasting disease.
featured on @GlobalEdmonton with @SuLingGoh and @jameskcumming:
2 March, 2022
Global News
University Of Alberta: New Treatment Could Benefit Up To 45 Per Cent Of Patients With Duchenne Muscular Dystrophy
University Of Alberta: New Treatment Could Benefit Up To 45 Per Cent Of Patients With Duchenne Muscular Dystrophy
By Iednewsdesk On Feb 25, 2022
India Education Daily
News
Drug Cocktail Could Be Effective in Almost Half of Patients With Duchenne Muscular Dystrophy
Drug Cocktail Could Be Effective in Almost Half of Patients With Duchenne Muscular Dystrophy
By GILLIAN RUTHERFORD
Published: February 24, 2022
Technology Networks
'Cocktail' drug developed at U of A to treat neuromuscular disease
'Cocktail' drug developed at U of A to treat neuromuscular disease
Published Feb. 23, 2022 12:16 p.m. MST
22 February, 2022
22 February, 2022
Development of New Therapy Holds Promise for Duchenne Muscular Dystrophy Treatment
Development of New Therapy Holds Promise for Duchenne Muscular Dystrophy Treatment
A study published on February 22, 2022, reports the development of a novel therapy for Duchenne muscular dystrophy (DMD), a fatal disorder characterized by progressive muscle weakness. The research, led by Kenji Rowel Q. Lim, Rika Maruyama, and Toshifumi Yokota among others, proposes a more economical approach to treating DMD that could benefit nearly half of all patients with the condition.
DMD is primarily caused by out-of-frame deletions in the dystrophin gene. These deletions lead to the absence of dystrophin, a protein essential for muscle strength and stability. At present, there is no cure for DMD. However, an emerging potential therapy called exon skipping is on the horizon. This method uses antisense oligonucleotides to convert out-of-frame mutations to in-frame mutations, enabling the production of a truncated but partially functional dystrophin.
The currently approved exon skipping therapies have limited applicability and efficacy, each treating only 8 to 14% of DMD patients. The authors of this study, however, developed a method to skip DMD exons 45 to 55, a strategy that could treat 40 to 47% of all DMD patients.
Experiments with immortalized patient myotubes showed that exons 45 to 55 could be skipped by targeting just five exons. The researchers found that conjugating a cell-penetrating peptide, DG9, to phosphorodiamidate morpholino oligomers (PMOs) improved dystrophin restoration and muscle function in mice. Local administration of a minimized exons 45 to 55–skipping DG9-PMO mixture also restored dystrophin production.
This new therapy represents a significant step forward in the potential treatment of DMD and paves the way for the development of a more economical and effective exons 45 to 55–skipping DMD therapy.
U of A researchers receive grants from Heart & Stroke Foundation for “important, novel research” projects
U of A researchers receive grants from Heart & Stroke Foundation for “important, novel research” projects
Five projects focused on heart disease and stroke, particularly in children, will receive $300,000 each over the next three years.
Ryan O'Byrne - 14 January 2022
FACULTY OF MEDICINE & DENTISTRY
UNIVERSITY OF ALBERTA
2 December, 2021
2 December, 2021
Duchenne Muscular Dystrophy Pig Model Provides New Opportunities for Treatment Evaluation
Duchenne Muscular Dystrophy Pig Model Provides New Opportunities for Treatment Evaluation
A collaborative study by scientists from universities across the world, including the University of Alberta, Ulster University, and Texas A&M University, reports the development of a Yucatan miniature pig model of Duchenne muscular dystrophy (DMD) with an exon 52 deletion mutation. This mutation mirrors one of the most common ones seen in DMD patients. The model was created using recombinant adeno-associated virus-mediated gene targeting and somatic cell nuclear transfer.
DMD is a lethal X-linked recessive disorder caused by mutations in the DMD gene, leading to the absence of the dystrophin protein. Treatments using phosphorodiamidate morpholino oligomer (PMO)-antisense oligonucleotides (ASOs) targeting exon 51 or 53 to reestablish the DMD reading frame have been commercially available but have limitations, with applicability only to specific patients. Hence, the development of large animal models and the evaluation of exon skipping are crucial to advance ASO development and to understand dystrophinopathies better.
The created DMD pig model exhibits dystrophin deficiency in skeletal and cardiac muscles, along with a lack of recruitment of dystrophin-associated proteins to the sarcolemma. Disease onset in these pigs was early, with severe body-wide skeletal muscle degeneration, poor growth, and physical abnormality, yet there was no obvious cardiac phenotype.
The researchers also demonstrated that primary DMD pig skeletal muscle cells with the genetically engineered exon-52 deleted pig DMD gene could evaluate the efficacy of exon 51 or 53 skipping with PMO and its advanced technology, peptide-conjugated PMO.
This study highlights the potential of the DMD pig model as a valuable resource for evaluating in vivo exon skipping efficacy, providing an instrumental tool for further DMD research and therapy development.
23 November, 2021
23 November, 2021
Dp71 Dystrophin Isoform Overexpression Impacts Cardiac Function: Insights from Mouse Model
Researchers from the University of Alberta recently published a study in the International Journal of Molecular Sciences revealing insights into the role of the Dp71 dystrophin isoform in Duchenne muscular dystrophy (DMD). The study was conducted by using a unique mouse model that overexpresses Dp71, enabling the researchers to understand its impact on both skeletal and cardiac muscle phenotypes.
DMD, a progressive disorder causing muscle weakness and cardiac dysfunction, is characterized by the loss of dystrophin, a 427 kDa protein vital for muscle cell membrane stability. Although multiple promoters along the dystrophin gene give rise to several shorter isoforms, including the 71 kDa Dp71, there has been a lack of strong evidence supporting Dp71's role in DMD pathology.
The study utilized del52;WT mice, which apart from the mouse Dmd gene, are heterozygous for a full-length, exon 52-deleted human DMD transgene expected to only allow Dp71 expression in muscle. This unique characteristic causes the del52;WT mice to overexpress Dp71 through both the human and murine dystrophin genes.
The team found elevated Dp71 protein levels in del52;WT mice, significantly higher in the heart than in the tibialis anterior muscle. Despite having generally normal skeletal muscle, del52;WT mice showed significant systolic dysfunction in the heart as early as three months, although no histological abnormalities were found in either the tibialis anterior or heart.
These findings suggest that overexpression of Dp71 might have more detrimental effects on cardiac function than on skeletal muscles, further highlighting the critical role of Dp71 in DMD pathogenesis. This study helps broaden our understanding of DMD and potentially opens up new avenues for developing therapeutic strategies.
Yokota Lab Shines at the 2021 WCHRI Research Day
November 4, 2021
The 14th Annual Women and Children’s Health Research Institute (WCHRI) Research Day, held on November 3 and 4, 2021, was a remarkable event showcasing the dedication and innovative research of trainees in children’s and women’s health. The Yokota Lab at the University of Alberta made significant contributions to this prestigious event, with two of its members receiving top honours for their outstanding research presentations.
Saeed Anwar Wins Top Award in PhD Oral Presentations
Saeed Anwar, a PhD candidate from Dr. Toshifumi Yokota’s lab, delivered an exceptional presentation titled “Antisense oligonucleotide-mediated exon 27 skipping of dysferlin for the treatment of dysferlinopathy.” His groundbreaking work focuses on developing novel antisense oligonucleotide therapies to treat dysferlinopathy, a debilitating genetic muscle disorder. Anwar’s innovative approach aims to restore muscle function by targeting specific gene mutations, offering new hope for patients with this rare disease.
Harry Wilton-Clark Earns Third Place in People’s Choice Award
Harry Wilton-Clark, another talented researcher from the Yokota Lab, received the third-place People’s Choice Award for his compelling study on “Competition between dystrophin isoforms causes a Duchenne muscular dystrophy-like phenotype.” His research provides critical insights into the molecular mechanisms underlying Duchenne muscular dystrophy (DMD), potentially leading to more effective treatments for this severe muscle-wasting condition.
WCHRI Research Day: A Platform for Excellence
WCHRI Research Day is an annual event that offers a highly-engaged learning and networking environment, showcasing trainee research accomplishments in children’s and women’s health. All presentations were judged by the WCHRI Research Day Judging Committee, with outcomes based on relevance to WCHRI’s mission and the judges’ scoring. The event is supported by the Stollery Children's Hospital Foundation (SCHF) and the Alberta Women's Health Foundation (AWHF), whose ongoing commitment and generosity make such platforms possible.
Recognition of Excellence in Women and Children’s Health Research
The Yokota Lab continues to push the boundaries of genetic research, developing innovative therapies to combat muscular dystrophy and other rare diseases. The recognition at WCHRI Research Day highlights the lab’s commitment to excellence and its significant contributions to the scientific community.
SCIENCE AND TECHNOLOGY HEALTH AND WELLNESS RESEARCH
Online resource will speed up development of new approach to treating genetic diseases
Online resource will speed up development of new approach to treating genetic diseases
U of A research team leads international effort to advance exon-skipping therapy with the help of their machine-learning-based eSkip-Finder tool and database.
Keri Sweetman - 29 June 2021
FACULTY OF MEDICINE & DENTISTRY
UNIVERSITY OF ALBERTA
• 20 June, 2021
Today is World FSHD Day! In honor of World FSHD Day, we hosted an FSHD 101 webinar.
1) What is FSHD? 2)What are the symptoms/signs? 3)How is FSHD diagnosed?/Prognosis? 4)What are treatment options? 5)What research is being done?
• 9 June, 2021
Machine Learning-based Web Application eSkip-Finder Aids in Identifying Optimal Antisense Oligonucleotides Sequences for Exon Skipping
A study published in Nucleic Acids Research introduces eSkip-Finder, a novel web-based resource aimed at assisting researchers in identifying effective antisense oligonucleotides (ASOs) for exon skipping. This tool, developed using machine learning algorithms, could play a significant role in mRNA splicing modulation.
Exon skipping using ASOs has emerged as a powerful tool in treating genetic diseases, with several exon-skipping ASOs gaining approval worldwide. However, selecting an optimal sequence for exon skipping remains a challenging task, mainly due to the unpredictability of ASO efficacy and the multiple factors affecting exon skipping.
To address this challenge, the researchers developed eSkip-Finder, a computational tool incorporating various parameters and experimental data to design highly effective ASOs for exon skipping. eSkip-Finder provides a predictor for the exon skipping efficacy of new ASOs and a database of existing exon skipping ASOs.
The predictor enables swift analysis of exon/intron sequences and ASO lengths to identify effective ASOs for exon skipping based on a machine learning model trained with experimental data. The researchers verified that the predictions correlated well with the in vitro skipping efficacy of sequences that were not included in the training data.
Meanwhile, the database allows users to search for ASOs using queries like gene name, species, and exon number.
The eSkip-Finder tool leverages the literature data on exon skipping antisense oligonucleotides, providing both a database and a predictive tool for skipping efficacy. This helps researchers in designing effective exon skipping therapies, potentially accelerating the development of treatments for various genetic diseases.
Enhancing the efficacy of antisense oligonucleotide therapy for FSHD
Enhancing the efficacy of antisense oligonucleotide therapy for FSHD
3 July 2021
Neuromuscular Research Funding Announcements From Jesse’s Journey and Muscular Dystrophy Canada
Neuromuscular Research Funding Announcements From Jesse’s Journey and Muscular Dystrophy Canada
Published: 31 May 2021
The Neuromuscular Disease Network for Canada
MDC funds seven new projects to propel research forward during challenging times
MDC funds seven new projects to propel research forward during challenging times
Toronto, Ontario
Muscular Dystrophy Canada
Research We Fund
Research We Fund
At Defeat Duchenne Canada, we know that research is the only way to find a cure and improve care for those living with Duchenne muscular dystrophy.
At Defeat Duchenne Canada, we know that research is the only way to find a cure and improve care for those living with Duchenne muscular dystrophy.
May 4, 2021
May 4, 2021
Defeat Duchenne Canada
Defeat Duchenne Canada
FDA approves new drug to treat common form of muscular dystrophy based on research from University of Alberta
FDA approves new drug to treat common form of muscular dystrophy based on research from University of Alberta
9 OCT 2020 1:02 AM AEDT
News Mirage
FDA approves new drug to treat common form of muscular dystrophy based on research from U of A scientist
FDA approves new drug to treat common form of muscular dystrophy based on research from U of A scientist
Created using synthetic DNA, viltolarsen is an excellent example of precision medicine.
Created using synthetic DNA, viltolarsen is an excellent example of precision medicine.
By RYAN O'BYRNE
Published On 8 October 2020
Folio
NEWS
New muscular dystrophy treatment shows promise in pre-clinical trials
New muscular dystrophy treatment shows promise in pre-clinical trials
A group of researchers has used locked nucleic acid gapmer antisense oligonucleotides to treat facioscapulohumeral muscular dystrophy in cells and mice.
By Victoria Rees (Drug Target Review)
June 30, 2020
• 29 June, 2020
I am pleased to announce that our new PNAS paper "Inhibition of DUX4 expression with antisense LNA gapmers as a therapy for facioscapulohumeral muscular dystrophy" is now available online!
New treatment for common form of muscular dystrophy shows promise in cells, animals
New treatment for common form of muscular dystrophy shows promise in cells, animals
By GILLIAN RUTHERFORD
Published On 29 June 2020
Folio
Seeking a cure for muscular dystrophy
Seeking a cure for muscular dystrophy
WCHRI Annual Report 2019-2020
Published on May 13, 2020
SCIENTISTS CREATE DNA STITCH TO TREAT PATIENTS WITH MUSCULAR DYSTROPHY
SCIENTISTS CREATE DNA STITCH TO TREAT PATIENTS WITH MUSCULAR DYSTROPHY
Industry Global News24
Published On 01 Oct 2019 07:23 PM
Un nuovo trattamento sperimentale si rivelerebbe efficace per trattare pazienti con distrofia muscolare di Duchenne. Questo nuovo trattamento, secondo il comunicato stampa apparso sul sito delle no…notiziescientifiche.it/distrofia-muscolare-di-duchenne-nuovo-trattamento-ripristina-produzione-di-distrofina/
Distrofia muscolare di Duchenne, nuovo trattamento ripristina produzione di distrofina
Distrofia muscolare di Duchenne, nuovo trattamento ripristina produzione di distrofina
Notizie scientifiche.it
Pubblicazione: 26/09/2019
Researchers find DNA therapy could treat patients with DMD
Researchers find DNA therapy could treat patients with DMD
A study has revealed that using DNA-like molecules to repair gene mutations in models could act as a successful therapy for patients.
By Victoria Rees (Drug Target Review)
26 September 2019
Science Daily
Researchers developing new 'DNA stitch' to treat muscular dystrophy
Researchers developing new 'DNA stitch' to treat muscular dystrophy
Experimental treatment has potential to help almost half of patients with Duchenne muscular dystrophy
Experimental treatment has potential to help almost half of patients with Duchenne muscular dystrophy
:September 25, 2019
U of A researchers developing new ‘DNA stitch’ to treat muscular dystrophy
U of A researchers developing new ‘DNA stitch’ to treat muscular dystrophy
Experimental treatment has potential to help almost half of patients with Duchenne muscular dystrophy.
Experimental treatment has potential to help almost half of patients with Duchenne muscular dystrophy.
By ROSS NEITZ
Folio · September 25, 2019
• 9 August, 2019
Very excited to share our new work demonstrating the effects of mutation-tailored antisense cocktails to treat over 65% of DMD patients carrying out-of- or in-frame deletions, just published in the journal Molecular Therapy!
LO student chosen as a Fulbright Scholar
LO student chosen as a Fulbright Scholar
By Claire Holley
Pamplin Media Group · Aug. 3, 2019
• 5 July, 2019
Quynh's new review article : Current Understanding and Treatment of Cardiac and Skeletal Muscle Pathology in Laminin-α2 Chain-Deficient Congenital Muscular Dystrophy, just published in The Application of Clinical Genetics!
• 1 May, 2019
Rohini Roy Roshmi received the Alberta Innovates Summer Studentship to develop a novel genome-editing therapy for Duchenne muscular dystrophy. Congratulations!
• 1 May, 2019
Kasia Dzierlega received the @NSERC Undergraduate Student Research Award to study the role of water channels in muscle. Congratulations!
• 29 April, 2019
Rika gave an oral presentation on therapeutic CRISPR genome editing for Duchenne muscular dystrophy @ASGCT annual meeting. She was also a recipient of the travel award!
https://twitter.com/ToshifumiYokota/status/1122838441341988865
https://twitter.com/ToshifumiYokota/status/1122890298147901440
https://www.asgct.org/global/documents/asgct19_abstracts_-final
Newly funded grants
Newly funded grants
FSHD Research / Newly funded grants
Posted on: Apr 05, 2019
Steps forward toward new treatments
Steps forward toward new treatments
FSHD Society
• 21 February, 2019
We are pleased to announce a special issue of the International Journal of Molecular Sciences for Fall 2019 entitled "Genome Editing Therapies"! Call For Papers open now! #mdpiijms Genome Editing Therapies http://www.mdpi.com/si/25333 @IJMS_MDPI
• 31 January, 2019
New paper by Shouta providing mechanistic insights into the uptake of morpholino antisense oligonucleotide into dystrophic skeletal muscle was just published! Have a look. https://www.sciencedirect.com/science/article/pii/S2162253119300125
• 10 January, 2019
Dr. Yuko Shimizu-Motohashi's new review article "Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches " just published. Congratulations! https://www.mdpi.com/2075-4426/9/1/1
• 7 December, 2018
Yusuke's new review article "Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges " just published. Congratulations! http://www.mdpi.com/377894
• 24 November, 2018
Kenji and Chantal's review article on Applications of CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy is officially out today!
脊髄性筋萎縮症に核酸医薬、筋ジス研究も加速か
脊髄性筋萎縮症に核酸医薬、筋ジス研究も加速か
2017/10/11
By Rina Mitsutake
Nikkei Medical · October 11, 2017
Researchers uncover two new promising gene therapies to treat muscular dystrophy
Researchers uncover two new promising gene therapies to treat muscular dystrophy
By LESLEY YOUNG
Folio · August 25, 2017
POSTED ON MAY 08, 2017
IFOPA and Canadian FOP Network Partnering to Fund FOP Research
IFOPA and Canadian FOP Network Partnering to Fund FOP Research
The Canadian FOP Network and the IFOPA are joining forces to fund research conducted by rare disease experts at the University of Alberta through the IFOPA’s Competitive Research Grant (CRG) Program.
In The GENES
In The GENES
This University of Alberta geneticist sees the beginning of the end for a strain of the most ravaging muscle diseases
This University of Alberta geneticist sees the beginning of the end for a strain of the most ravaging muscle diseases
HEROES - Spring 2016
HEROES - Spring 2016
By Cory Schachtel
HEROES Magazine
Published on May 4, 2016
RESEARCH WORK TAKES BAILEY TO JAPAN
RESEARCH WORK TAKES BAILEY TO JAPAN
Weekly Review · January 26, 2016
Top-two finish for UAlberta at Falling Walls Lab
Top-two finish for UAlberta at Falling Walls Lab
Lian Willetts’ presentation on prostate cancer metastasis leads to second-place finish at international research competition.
Lian Willetts’ presentation on prostate cancer metastasis leads to second-place finish at international research competition.
By NEWS STAFF
Folio · November 9, 2015
Graduate students shine light on the frontiers of discovery
Graduate students shine light on the frontiers of discovery
Falling Walls Lab challenges UAlberta students to break down walls
Falling Walls Lab challenges UAlberta students to break down walls
By AMY HEWKO
Folio · October 2, 2015
Federal funding supports innovative research in Faculty of Medicine & Dentistry
Federal funding supports innovative research in Faculty of Medicine & Dentistry
By CAIT WILLIS
Folio · July 28, 2015
Neuromuscular disease network to enhance Canadian research, patient care
Neuromuscular disease network to enhance Canadian research, patient care
By ROSS NEITZ
Folio · June 12, 2014
Discovery one step closer to treatment for Duchenne muscular dystrophy
Discovery one step closer to treatment for Duchenne muscular dystrophy
by Raquel Maurier
Medical Xpress · July 30, 2013
Edmonton researchers at the University of Alberta have found a way to regrow a protein missing in Duchenne muscular dystrophy in mice
Edmonton researchers at the University of Alberta have found a way to regrow a protein missing in Duchenne muscular dystrophy in mice
By Allison Salz
Edmonton Sun · July 29, 2013
Parent Project Muscular Dystrophy Awards $50,000 to Dr. Toshifumi Yokota for Multi-Exon Skipping Project
Parent Project Muscular Dystrophy Awards $50,000 to Dr. Toshifumi Yokota for Multi-Exon Skipping Project
News provided by Parent Project Muscular Dystrophy
PR Newswire · September 27, 2012
UAlberta breakthrough could help treat muscular dystrophy
UAlberta breakthrough could help treat muscular dystrophy
By Raquel Maurier
Medical Xpress · August 13, 2012
U of A researchers find possible relief for muscular dystrophy patients
U of A researchers find possible relief for muscular dystrophy patients
By Laura Collinson
CTV Edmonton · Published Thursday, August 9, 2012
Researchers Develop DNA "Patch" For Canine Form of Muscular Dystrophy
Researchers Develop DNA "Patch" For Canine Form of Muscular Dystrophy
Technology Networks · Published March 20, 2009
Researchers Develop DNA "Patch" For Canine Form of Muscular Dystrophy
Researchers Develop DNA "Patch" For Canine Form of Muscular Dystrophy
NIH News · Published March 16, 2009
First treatment for muscular dystrophy in sight: Scientists successfully harness exon-skipping
First treatment for muscular dystrophy in sight: Scientists successfully harness exon-skipping
Researchers from Children's National Medical Center and colleagues in Tokyo publish results, video of first successful trial in dogs with Duchenne muscular dystrophy
AAAS and EurekAlert! · March 16, 2009
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