SUMMARY
Marka M. Van Blitterswijk, M.D., Ph.D., focuses her research on the genetics of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and related disorders. She is particularly interested in a long repeat expansion that is located in a gene called C9orf72, which is the most common genetic cause of ALS and FTD identified thus far.
Dr. Van Blitterswijk's Genomics of ALS and Integrative Analytics Laboratory at Mayo Clinic concentrates on the discovery of novel genes, biomarkers, disease modifiers and therapeutic targets for these fatal neurodegenerative diseases by using innovative patient-oriented approaches. As a geneticist and bioinformatician, Dr. Van Blitterswijk integrates bench work with bioinformatics and biostatistics, including cutting-edge technologies and analyses (such as long-read sequencing and machine learning).
Focus areas
- Repeat expansions. Dr. Van Blitterswijk's laboratory uses long-read sequencing technologies to determine the length and composition of expanded repeats, including C9orf72 repeat expansions.
- Biomarker discovery. Dr. Van Blitterswijk investigates the potential utility of C9orf72 levels and other candidates as much needed biomarkers for ALS, FTD and related disorders.
- RNA signatures. Dr. Van Blitterswijk's laboratory is using various RNA sequencing technologies to identify genes that could account for the clinicopathological variability associated with neurodegenerative diseases, especially C9orf72-linked diseases.
- Extreme phenotypes. Dr. Van Blitterswijk uses whole-genome sequencing to compare patients at the ends of the phenotypic spectrum to identify promising genetic disease modifiers of ALS and related disorders.
- Cerebral organoids. In collaboration with an international team of investigators, Dr. Van Blitterswijk is developing a novel, high-throughput platform to create uniform cerebral organoids to recapitulate the complex multifaceted pathology of neurodegenerative diseases.
Significance to patient care
Dr. Van Blitterswijk is intrigued by the substantial clinical and pathological variability observed in patients with neurodegenerative diseases. Using inventive approaches, she seeks to identify genes that may aid in explaining why this variability occurs. As such, her studies should help to increase understanding of these debilitating diseases and may point to new biomarkers, disease modifiers and druggable targets.
Professional highlights
- Recipient, 9th International Medicine Paulo Gontijo Award, Paulo Gontijo Institute, 2017