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Soma Das is a Professor at the University of Chicago specializing in molecular diagnosis of human genetic diseases. His research interests focus on translating knowledge from basic research into diagnostic applications, particularly in the field of neurodevelopmental disorders. Das is dedicated to understanding the molecular basis of these disorders and the genotype-phenotype correlations to broaden the associated phenotypes linked to neurodevelopmental genes. His work encompasses a range of conditions, from rare orphan genetic disorders such as Rett and Angelman syndromes to more common disorders like ataxia. By utilizing advanced high throughput sequencing techniques, including exome sequencing, Das aims to identify disease-causing variants. He is also interested in evaluating the clinical utility of groundbreaking diagnostic technologies like whole genome sequencing and transcriptome sequencing in molecular diagnostics.
Department of Philosophy