Soma Das

Soma Das is a Professor in the Department of Human Genetics at the University of Chicago. Her work focuses on the molecular diagnosis of human genetic diseases, with particular emphasis on translating basic research findings into clinical diagnostic applications. She has established herself as a leading expert in neurogenetics and molecular diagnostics, with a research program that spans both rare neurodevelopmental disorders and more common conditions like ataxia.

Dr. Das received her B.Sc. in Health Sciences from the University of Ife, Nigeria (1985), followed by an M.Sc. in Medical Genetics from the University of Glasgow, UK (1987), and a Ph.D. in Molecular Biology from University College London, UK (1991). She completed her postdoctoral training in Clinical Molecular Genetics at the University of California San Francisco (1995).

Her research interests center on neurodevelopmental disorders, with a focus on understanding the molecular basis of these conditions and establishing genotype-phenotype correlations. Dr. Das's laboratory works on a spectrum of disorders ranging from rare conditions like Rett and Angelman syndromes to more common disorders such as ataxia. Her team employs high-throughput sequencing techniques, particularly exome sequencing, to identify disease-causing variants. A long-term goal of her research is to evaluate the diagnostic and clinical utility of whole genome sequencing and transcriptome sequencing in molecular diagnostics.

Dr. Das has maintained an active research program, with numerous publications in high-impact journals spanning hematology, neurology, and genetics. Her recent work has focused on germline variants in hematopoietic malignancies, spinocerebellar ataxia, and variant interpretation methodologies. She has served as Principal Investigator on NIH-funded research examining DNA methylation in endometrial cancer.

Dr. Das has made significant contributions to the field of clinical genomics, particularly through her involvement with the American College of Medical Genetics and Genomics (ACMG) where she has helped establish standards for variant interpretation and clinical genomic testing.

Her laboratory's work bridges basic science and clinical applications, with a strong emphasis on developing tools and implementing new technologies to improve the diagnosis of human genetic disease. Dr. Das continues to be an active researcher and educator in the field of human genetics.