Marka M. Van Blitterswijk

Marka M. Van Blitterswijk, M.D., Ph.D., is an Associate Professor of Neuroscience at Mayo Clinic in Jacksonville, Florida, where she holds an administrative appointment as Associate Consultant II-Research in the Department of Neuroscience. She leads the Genomics of ALS and Integrative Analytics Laboratory, focusing on the genetic underpinnings of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and related neurodegenerative disorders.

Her educational background includes:

• MS in Bioinformatics, The Johns Hopkins University
• PhD in Complexity of Familial ALS, University of Utrecht
• MD, University of Utrecht
• Certificates in Statistical Analysis with R, C++ Programming, and Rare Diseases Research from University of Washington and NIH/NCATS

Dr. Van Blitterswijk’s research centers on the C9orf72 repeat expansion, the most common genetic cause of ALS and FTD. Her lab integrates molecular biology with advanced computational techniques—including long-read sequencing, RNA sequencing, machine learning, and whole-genome analysis—to investigate repeat expansions, identify biomarkers, uncover RNA signatures, analyze extreme phenotypes, and develop cerebral organoid models. These approaches aim to explain clinical and pathological variability in neurodegenerative diseases and to discover novel therapeutic targets.

Although specific publications are referenced, no article titles were provided in the source text, so trends in publication cannot be detailed. However, her work consistently emphasizes patient-oriented, integrative genomics to translate findings into clinical impact.

Her scientific recognition includes:

• Recipient of the 9th International Medicine Paulo Gontijo Award (2017) from the Paulo Gontijo Institute

Dr. Van Blitterswijk mentors trainees and contributes to postdoctoral fellowship programs at Mayo Clinic. While specific grants are not listed, her research is supported through institutional and translational research frameworks at Mayo Clinic, particularly in the areas of rare diseases and neurogenomics. She collaborates internationally, especially in cerebral organoid development, and her work is embedded within Mayo Clinic’s broader neuroscience research ecosystem, including core facilities and translational research centers.

She is actively leading a multidisciplinary research team within the Genomics of ALS and Integrative Analytics Laboratory, which combines wet-lab experimentation with bioinformatics and biostatistics to advance understanding of fatal neurodegenerative conditions.