Dr. Marka van Blitterswijk, M.D., Ph.D., is an Associate Professor & Associate Consultant II (ACII) at Mayo Clinic (Jacksonville, Florida). Her laboratory focuses on the genetics of neurodegenerative diseases, primarily amyotrophic lateral sclerosis (ALS). ALS, also known as Lou Gehrig’s disease, is a fatal disease that impairs both the upper and lower motor neurons, generally resulting in progressive muscle weakness and spasticity. She is particularly interested in a hexanucleotide repeat expansion that is located in the C9orf72-SMCR8 complex subunit (C9orf72), which represents the most common genetic cause of ALS identified thus far. Importantly, repeat expansions in C9orf72 are also a frequent cause of frontotemporal dementia (FTD). Dr. Van Blitterswijk’s laboratory concentrates on the identification of genetic modifiers, biomarkers, therapeutic targets, and novel genes for neurodegenerative diseases using innovative patient-oriented approaches. As a geneticist and bioinformatician, she integrates benchwork with bioinformatics and biostatistics, employing state-of-the-art technologies and analyses (e.g., long-read sequencing and machine learning). Dr. Van Blitterswijk has published more than 75 articles, including studies identifying transmembrane protein 106B (TMEM106B) as the first genetic modifier involved in disease presentation of C9orf72 expansion carriers, discovering clinical associations with C9orf72 transcripts, investigating the RNA foci burden in patients with an expanded C9orf72 repeat, uncovering the importance of vesicular transport in C9orf72-related diseases, and using targeted long-read sequencing to untangle C9orf72 repeat expansions. In recognition of her work, she received the International Paulo Gontijo (PG) Award in Medicine.