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6-December-25. Dr. Arturo López´s interview because of the communication of results from the NUTRIGENOMICS project (INCLIVA-FUVAMA collaboration): "La Llavor, cadena SER"
https://cadenaser.com/embed/audio/460/1764923607885/ (audio)
2 December 2025. Researchers from INCLIVA and CIBERER recently met with the Human Translational Genomics Group at the University of Valencia to present advances in the DM1-hub project. The initiative aims to establish a comprehensive registry and genomic characterization of up to 3,000 patients with myotonic dystrophy. Discussions focused on the implementation of next-generation sequencing using Oxford Nanopore technology and the associated bioinformatic pipelines for variant calling and structural rearrangement analysis. The meeting also highlighted progress in therapeutic research, including novel applications of antisense gapmers targeting MSI2, and transcriptomic profiling strategies in LGMDD2 to elucidate pathogenic mechanisms and identify potential therapeutic targets. These developments underscore the integration of cutting-edge sequencing platforms with translational approaches to accelerate precision medicine in neuromuscular disorders.
26 November 2025🚨 PhD POSITION AVAILABLE 🚨
Are you passionate about science and rare diseases? Join the Human Translational Genomics Group (University of Valencia) for the project: “Mechanistic Understanding and Correction Strategies for LGMDD2”.
4-year predoctoral contract. You will work on cell culture, molecular biology, bioinformatics, and mouse models to unravel the TNPO3 mutation and explore innovative therapies.
Requirements: Degree in Science/Health, eligible for UV PhD program, no doctoral degree. English and lab experience are a plus.
📧 javier.poyatos@uv.es | abargiela@incliva.es | ruben.artero@uv.es
Spain Launches National Association for Myotonic Dystrophy Type 1 Patients
15 October.2025. A major step forward for rare disease advocacy has been achieved with the creation of the Spanish Association of Myotonic Dystrophy Type 1 Patients (ADM1ES). This new organization is dedicated to supporting individuals and families affected by DM1—a complex, multisystemic genetic disorder that impacts muscle function and overall health. ADM1ES aims to provide resources, raise awareness, and promote research collaborations to improve care and quality of life. A clear example is the Medical Alert Card from the Myotonic Dystrophy Foundation, which includes critical information for anesthesia, cardiac monitoring, and emergency care (downloadable document to the right). By fostering community and amplifying patient voices, the association seeks to transform the future for those living with DM1 in Spain. The Human Translational Genomics group proudly supports this initiative, reinforcing the commitment to advancing research and patient empowerment. Learn more at adm1es.com.
MDF_Medical-Alert-Card-Spanish_9-2025.pdfINCLIVA and FUVAMA deepen collaboration on citrus and health through nutrigenomics
9-July-25. INCLIVA and FUVAMA (linked to AVA-ASAJA) have renewed their collaboration to investigate how citrus fruits—especially oranges and mandarins—can modulate gene expression and promote health. This effort, led by INCLIVA’s Human Translational Genomics Group under Dr. Arturo López Castel, builds on a pioneering nutrigenomics project launched in 2023. Initial animal studies revealed that citrus-enriched diets trigger significant gene expression changes in multiple organs, activating specific molecular pathways. The new research phase combines omics analyses, proteomics, and AI-based data integration to better understand these effects and their functional implications. Supported by the Generalitat Valenciana, this project exemplifies a strategic public-private alliance, highlighting the value of local agriculture in precision nutrition and evidence-based disease prevention.
ARTHEx Biotech and Translational Pharma Solutions Win Santander X Awards
9-June-25. ARTHEx Biotech and Translational Pharmaceutical Solution, two innovative projects linked to the Human Translational Genomics group at the University of Valencia, have won the 2025 Santander X Spain Awards. ARTHEx Biotech earned the €4,000 Startup Award for its anti-microRNA-based therapy for myotonic dystrophy, while Translational Pharma Solutions won the €2,000 Entrepreneurial Project Award for repurposing haloperidol to treat spinal muscular atrophy.
🔬 Explore the Frontiers of Rare Disease Research – Join Our Lab!
Are you a third-year undergraduate student passionate about biomedical science and eager to make a real impact? Our research lab at the University of Valencia is offering a unique opportunity to dive into the fascinating world of rare diseases.
Gain hands-on experience, work alongside expert researchers, and contribute to meaningful discoveries that could change lives. This is more than just a lab placement — it’s a chance to be part of something extraordinary.
For additional information and how to apply visit: https://www.uv.es/uvweb/instituto-universitario-biotecnologia-biomedicina-BIOTECMED/es/novedades/convocatoria-del-plan-formativo-colaboracion-grupos-investigacion-biociencias-moleculares-1285923342500/Novetat.html?id=1286435293279
2 de junio de 2025. El proyecto DM1-Hub tiene como objetivo generar una red estatal que permitirá conocer la historia natural de los pacientes con Distrofia Miotónica tipo 1 (DM1), así como definir marcas o características de su genoma y proteoma para el desarrollo de protocolos de medicina de precisión. El próximo 2 de junio es el lanzamiento. Para más información e inscripciones: https://www.germanstrias.org/es/eventos/1030/
La sesión se retransmitirá en directo a través de este enlace:
https://igtp-cat.zoom.us/meeting/register/69kqz87JSLGv7dK0g1EodA
Flyer Lanzamiento DM1-Hub 2 de junio 1_1748427819.pdfMarch 18, 2025. We participate in ENTRY-DM, an MSCA multidisciplinary doctoral network aimed at developing oligonucleotide-based therapies and preparing clinical trials in myotonic dystrophy, through advanced doctoral training. It brings together 11 European laboratories and 18 international partners with expertise in disciplines as varied as medicinal chemistry, genetics, multi-omics, bioengineering and neuropsychology. The network is recruiting 14 doctoral candidates through Euraxess under the leadership of Mario Gomes-Pereira. Within the network, our laboratory is seeking two Doctoral Candidates (DC) who will enjoy a dynamic environment at the University of Valencia and close contact with ARTHEX Biotech, a spin-off company from our laboratory.
DC6 will focus on understanding the mechanisms by which MBNL translational repressor miRNAs are misregulated in DM1, their contribution to the disease, and how DMPK levels change in response to antimiRs. You will use muscle models such as immortalized patient-derived cells and human primary myoblasts.
DC9 will aim to discover means to enhance therapeutic antisense oligonucleotides by improving cellular uptake and endosomal escape, including genetic and drug screens using reporter cell lines. Effective approaches will be prioritized, and mechanisms of action will be defined. Results will be validated in DM1 disease models, evaluating hallmark features like RNA foci, and muscle strength using patient-derived cells and transgenic mice.
Candidate Profile: We seek a highly motivated and ambitious candidate with a strong background in genetics and cellular biology, particularly in RNA-based therapeutics. The ideal candidate should hold a Master’s degree in Molecular Life Sciences, Physiology, Biomedical Sciences, or a related field, with hands-on experience in gene and protein quantification techniques, immunofluorescence, and cell culturing. Note MSCA transnational mobility rule applies (the applicant must have not resided in the country where the research training takes place for more than 12 months in the 3 years before recruitment).
Application Process: Submit a single PDF document to Ruben Artero (DC6; Ruben.Artero@uv.es), or Arturo López Castel (DC9; arlocas@uv.es), and recruitment.entrydm@gmail.com, including your CV, motivation letter, academic certificates, proof of English proficiency, national identity card, and two recommendation letters.
flyer ENTRY-DM (2).pdf3 de marzo de 2025. El laboratorio de Genómica Traslacional Humana participará en la I Edición TERRETA, Tratamientos y Enfermedades RaRas: Estrategias Terapéuticas Avanzadas, un evento científico sobre enfermedades por expansión de repeticiones que se celebrará el 3 de marzo de 2025 en INCLIVA. El Dr. Rubén Artero presentará su investigación sobre el uso de antimiRs en la distrofia miotónica, destacando su potencial terapéutico para modular la expresión génica y frenar la progresión de la enfermedad, y la traslación de resultados a Arthex Biotech. El Dr. Arturo López Castel abordará los retos del síndrome CANVAS, explorando estrategias innovadoras y el desarrollo de modelos de experimentación en esta enfermedad aun muy poco estudiada. El evento reunirá a científicos y pacientes para compartir avances en enfermedades raras, con ponencias sobre nuevas terapias para la ELA, la enfermedad de Huntington y la ataxia de Friedreich, además de mesas redondas sobre biobancos y el papel de la sociedad en la investigación biomédica. La jornada está avalada por CIBERER y se podrá seguir en formato online. Las inscripciones están abiertas en https://form.typeform.com/to/RdPhRu3k.
February 27-28, 2025. At the 4th edition of the Synergistic Meeting on Oligonucleotide Therapeutics (SMOT IV), held at the CIPF and co-sponsored by the OTS Society, our group made a remarkable impact with the presentations of Dulce Peris Moreno and Rubén Artero, highlighting advancements in the field. Dulce presented her research in the session on Optimizing Design and Chemistry to Improve Delivery, where she unveiled novel chemical strategies to enhance the stability and precision of oligonucleotide-based therapies. Her outstanding work was recognized with the Best Flash Presentation Award, underscoring its significance in advancing drug efficacy and specificity. Rubén’s contribution was featured in the Speed Partner Search session, where he introduced the launch of the recruitment process for the Interdisciplinary Doctoral Training Network on Oligonucleotide-Based Therapies for Myotonic Dystrophy: ENTRY-DM, coordinated by Dr. Mario Gomes Pereira (INSERM). This initiative aims to train the next generation of researchers in oligonucleotide therapeutics, fostering cross-disciplinary collaborations and innovation. SMOT IV once again proved to be a hub for groundbreaking innovation, and we are proud to have been part of this dynamic exchange of ideas shaping the future of oligonucleotide therapeutics.
February 12, 2025. Valencia, Spain – Irene González, fourth-year Ph.D. student at Translational Genomics Group and lead proponent of Translational Pharma Solutions (TPS), has been awarded the top prize in the non-constituted companies category at the prestigious startup competition organized by BIOVAL Clúster BIO Comunidad Valenciana. The award was presented by Jesús Agüero González, director of BIOVAL, and Mariola Penadés, Director General of Research and Scientific Innovation at the Generalitat Valenciana. The jury highlighted González’s project for its strong scientific foundation, high social impact, and scalability, making it well-positioned for market entry. This recognition underscores the growing importance of innovative biotech solutions with real-world applications.
More details: LinkedIn
October 6th, 2024. Our laboratory welcomes Professor Mani Mahadevan from the University of Virginia, USA for a three-month sabbatical. Renowned for his pioneering discovery of the repeat expansion mutation causing myotonic dystrophy type 1 (DM1), Prof. Mahadevan is a global leader in genetic disorders and molecular pathology.
During his visit, he will collaborate with our team to discuss advancements in DM1 research, explore innovative opportunities, and foster mutual learning. His expertise in trinucleotide repeat expansions and translational research promises to significantly enhance our understanding and potential therapeutic approaches.
September 16, 2024. As part of the RED-DM network, our group organized an event to connect DM1 research with the concerns of patients and caregivers. The session covered RED-DM's mission, new therapy expectations, clinical trial progress, and the management of this multisystemic disease. Patients participated in a Q&A with top experts. Supported by patient associations like Feder, ASEM, BENE, MDF, and EuroDyma, the event also featured Arthex Biotech. More details are available here: https://www.incliva.es/la-red-tematica-nacional-en-distrofia-miotonica-tipo-1-red-dm-muestra-los-avances-en-el-desarrollo-de-las-terapias-en-una-sesion-on-line-abierta-al-publico.
April 9, 2024. Our colleagues from Translational Genomics attended IDMC-14, the biannual meeting of the International Myotonic Dystrophy Consortium, bringing together researchers, clinicians, caregivers, and patients to discuss the latest advances in DM research and treatment. RED-DM was prominently represented, with groups from Translational Genomics (UV/INCLIVA), Nucleic Acid Therapies for Rare Diseases (Biobizkaia), Biosensors for Bioengineering (IBEC), Neuromuscular Research in Badalona (IGTP), and IIS La Fe of Valencia.
October 1, 2021 – We are proud to announce that the project "Drug Repurposing for Spinal Muscular Atrophy (TRAT-AME)" has been selected as an initiative funded by the Valencian Innovation Agency (AVI). This three-year project involves various valorization objectives and includes the clinical trial of the candidate drug, which could lead to the creation of a spin-off company for its commercialization. The project strengthens the laboratory’s focus and expertise in excellence-driven research and the translation of findings into benefits for patients and society at large. Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease that progressively destroys motor neurons responsible for essential muscle functions. Muscle weakness and atrophy severely impact locomotion and vital bodily functions such as breathing, swallowing, and speaking. Currently, three approved therapeutic options exist for the most severe forms of the disease. However, all present clinical limitations and are costly. Our proposal aims to develop a repurposed drug that is effective, safe, and affordable, thereby expanding the arsenal of therapies currently available for SMA patients.
This project, with reference number INNVA1/2021/44, is co-financed by the European Union through the Operational Program of the European Regional Development Fund (ERDF) of the Valencian Community 2014-2020.
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