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My research began with studying a genetic mouse model of cleft palate. During my PhD, I analyzed bovine skeletal muscle transcriptome variations to explain meat fatty acid profiles, working with the Animal Nutrigenomics UCM team. My postdoctoral work focused on cell signaling in Drosophila systems related to metabolism and brain development, giving me a multidisciplinary perspective suited to translational research. I joined the Translational Genomics group as manager of the TATAMI project, developing innovative oligonucleotide-based therapies for DM1. I specialize in transcriptomics, genomics, metabolism, development, and imaging. Currently, I co-lead a project with Dr. López-Castel on nutrigenomics and citric fruit diets, in collaboration with INCLIVA and the University of Valencia, supported by AVA-ASAJA. I also participate in a European project on Spinal Muscular Atrophy led by Prof. Marina Boido. Committed to science communication, I’ve published on genetics in major Spanish outlets and reviewed SARS-CoV-2 variants in the Journal of Development Biology.
I hold a degree in Marine Sciences and Biotechnology from the Catholic University of Valencia (Spain, 2016) and a master’s degree in Medical Biology from Radboud University (Netherlands, 2019). During my first master’s internship, I investigated NTNG2 as a candidate gene for intellectual disability (Radboud UMC, Netherlands). My second internship, focused on identifying novel G-protein-coupled receptor targets in neurodegeneration (University of Glasgow, UK). For my Ph.D. in Health Biology at INRAE (France, 2019–2022), I developed strategies to mitigate muscle protein loss mediated by MuRF1/TRIM63, an E3 ubiquitin ligase. MuRF1, an E3 ubiquitin-ligase, targets muscle contractile proteins in diseases like cancer and diabetes, contributing to health decline. My research scope was characterizing MuRF1-E2 interactions through in vivo transfections and biochemical analyses, as well as conducting a high-throughput drug screening of ~9,000 compounds to inhibit these interactions. Currently, as a postdoctoral researcher in the Translational Genomics Lab, I study antisense oligonucleotide therapies for myotonic dystrophy type 1 (DM1).
My research career began with studying pyridine and pyrazole compounds and their anticancer activity. My master's and doctoral work focused on optic neuropathy, particularly glaucoma, using zebrafish as a model to explore the genetic basis of congenital and juvenile glaucoma. This included genetic diagnosis, functional studies of candidate genes, and creating knock-out, knock-in, or transgenic zebrafish models. I also investigated new genes involved in glaucoma and ocular development through whole exome sequencing. Throughout my career, I have gained expertise in diverse laboratory techniques, including histological methods (tissue staining, embedding, cryostat use) and molecular biology techniques such as immunostaining, PCR, RT-PCR, qPCR, Western blotting, and RNA, DNA, and protein extraction, along with zebrafish handling. Currently, I work in the Translational Genomics laboratory under an INCLIVA contract with Dr. Arturo López Castel.
I hold a degree in Biochemistry and a Master’s in Neuroscience. In 2023, I completed my Ph.D. at the La Fe Health Research Institute (Valencia), where I studied Duchenne and Becker muscular dystrophies. My thesis focused on clinical variability and potential modifying factors in patients with the exon 45–55 deletion in the DMD gene, a variant proposed as a natural model for exon-skipping therapies. I completed part of my doctoral training in the Neuromuscular Diseases Group at Biocruces Bizkaia, under Dr. V. Arechavala-Gomeza, where I specialized in dystrophin quantification and CRISPR-Cas9 gene editing. I also contributed to research in therapeutic oligonucleotides for myotonic dystrophy type 1. I have led recent work on limb-girdle muscular dystrophy type D2 (LGMDD2), caused by TNPO3 mutations, including the first human cell model of the disease. My current research focuses on understanding its pathophysiological mechanisms and exploring therapeutic strategies. In 2024, I was awarded a “Juan de la Cierva” postdoctoral fellowship and completed a five-month research stay in Prof. Julien Ochala’s lab (University of Copenhagen), specializing in single-fiber proteomics.
I earned my PhD degree in Biotechnology in 2016, focused on mitochondrial adaptations to high respiratory conditions, stress and mitochondrial damage in yeast. During my postdoctoral training at the University of Miami, I moved into human cell lines. My main research aim was to gain insight into the role of hypoxia-inducible proteins in the assembly of mitochondrial respiratory complexes and supercomplexes in different nutritional and environmental conditions. I was awarded with a Muscular Dystrophy Association Development Grant, to gain knowledge in mitochondrial encephalomyopathies. My second postdoctoral stay was at Oroboros Instruments (Austria) company, developing a diagnostic test in blood samples to detect deficiencies in mitochondrial function in multiple disorders. Currently, I am an Aristos postdoctoral fellow studying mechanisms to improve the delivery of synthetic therapeutic oligonucleotides, with a focus on myotonic dystrophy type 1.
I hold a degree in Biotechnology from the University of Valencia (Spain, 2018) and a master’s degree in Bioinformatics from the same institution (2020), where I specialized in the analysis and integration of genomic, transcriptomic, and epigenomic datasets. During my Ph.D. in Bioinformatics at I²SysBio (2020–2024), I developed and implemented advanced computational pipelines for RNA-Seq, gene co-expression networks and DAP-Seq data, with a focus on the study of complex transcriptional regulation networks. I also contributed to the development of online platforms for omics data visualization and integration, combining frontend development with complex data processing in R, Python, and Bash. After my PhD, I joined ValGenetics as Head of the Bioinformatics Unit, where I lead a multidisciplinary team focused on automating large-scale analyses using short- and long-read sequencing technologies, and on designing pipelines that integrate multi-omics data for variant calling and biomarker discovery. Currently, as a postdoctoral researcher in the Translational Genomics Lab, I am involved in studying myotonic dystrophy type 1 (DM1) within the context of the DM1-Hub project.
I hold a degree in Biomedical Engineering from Universidad Politécnica de Sinaloa (Mexico, 2018), where I completed a research internship at the Centro de Biomateriales e Ingeniería Tisular (UPV, Valencia, 2017), conducting a tissue engineering project to enhance muscle fibre regeneration by analysing stem cell responses. I earned my PhD in Medical Engineering from Queen Mary University of London (UK, 2024), where I developed a novel tendon-on-chip model to study mechanisms of inflammation, tissue repair, and mechanobiology. During my PhD, as part of the Centre for Predictive In Vitro Models, I gained expertise in advanced cell culture, in vitro models, molecular biology assays (qPCR, RNA extraction, Western blot, ELISA, immunostaining), microfluidic devices, and worked as a laboratory demonstrator, teaching and mentoring students. Currently, I am a postdoctoral researcher studying myotonic dystrophy at the molecular and cellular levels, with a focus on advancing RNA-based therapeutic strategies.