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Marka M. Van Blitterswijk, M.D., Ph.D., is an Associate Professor of Neuroscience and Associate Consultant II-Research in the Department of Neuroscience at Mayo Clinic in Jacksonville, Florida. She earned her M.D. and Ph.D. degrees from the University of Utrecht in the Netherlands, with her doctoral research focusing on the complexity of familial amyotrophic lateral sclerosis. She subsequently obtained an M.S. in Bioinformatics from The Johns Hopkins University, along with certificates in statistical analysis with R programming and C++ programming from the University of Washington, and a certificate in rare diseases research from the National Center for Advancing Translational Sciences at the National Institutes of Health.
Dr. Van Blitterswijk directs the Genomics of ALS and Integrative Analytics Laboratory, where her research centers on the genetics of amyotrophic lateral sclerosis, frontotemporal dementia, and related disorders, with particular emphasis on C9orf72 repeat expansions. Her work integrates bench research with bioinformatics, biostatistics, long-read sequencing, and machine learning to identify novel genes, biomarkers, disease modifiers, and therapeutic targets. She received the 9th International Medicine Paulo Gontijo Award in 2017 for her contributions to ALS research.
Explore Mayo Clinic's landmark C9orf72 gene discovery connecting ALS and FTD, earning the 2026 Breakthrough Prize. Impact on U.S. universities, med schools, and future neuroscience careers.
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