Dr. Kaitlin Samocha

Biography

Kaitlin Samocha is an Assistant Professor in the PhD Program in Biological Biomedical Sciences at Harvard University. Her research focuses on patterns of rare genetic variation in large collections of human genomic data, including patients and reference population individuals, aiming to design tools and methods that aid in interpreting genetic variation. One of her main research interests is identifying constrained genomic regions. Her group has been utilizing population data to pinpoint genes and regions of the genome relevant to human health, developing scores that measure the tolerance of genes to mutations. Another core aspect of her work involves improving variant interpretation, which is critical in medical genetics for determining the disease risk associated with genetic variants. Samocha's research has led to notable improvements in understanding the impacts of rare genetic variants associated with several conditions, including autism spectrum disorders and congenital heart disease. The Samocha Lab is affiliated with Massachusetts General Hospital and the Broad Institute, fostering strong collaborations in the field of rare disease research and statistical genetics.

Research Interests

Experience