Santhosh Girirajan

Santhosh Girirajan is the Department Head and T. Ming Chu Professor of Genomics in the Department of Biochemistry and Molecular Biology at Pennsylvania State University. His research focuses on uncovering the genetic and molecular basis of neurodevelopmental disorders, including autism, intellectual disability, schizophrenia, and epilepsy. He employs a multi-disciplinary approach combining human genetics, functional studies in model organisms (Drosophila, zebrafish, Xenopus), and computational genomics to study copy-number variants (CNVs) and their role in disease variability.

Key research interests include understanding how genetic interactions and modifiers influence phenotypic outcomes, developing tools for CNV detection (e.g., CN-Learn), and translating findings into therapeutic strategies. His lab collaborates with clinical teams and patient advocacy groups to recruit families for large-scale studies, such as the 16p12.1 deletion cohort.

Notable contributions include identifying genetic signatures in CNVs, demonstrating the role of epistasis in neurodevelopmental defects, and modeling disease mechanisms in Drosophila. His work is funded by the NIH, Simons Foundation, and March of Dimes. The Girirajan Lab is also affiliated with the Huck Institutes of the Life Sciences and the Center for Medical Genomics at Penn State.