Kaitlin Samocha

Kaitlin Samocha is an Assistant Professor in the Center for Genomic Medicine at Massachusetts General Hospital and Harvard Medical School. She is on the steering committee for the Genome Aggregation Database (gnomAD), one of the world’s largest publicly available collections of human genetic variation data, and is part of the Translational Genomics Group at the Broad Institute.

The focus of her research career has been on developing methods and statistical tools to improve interpretation of genetic variation, particularly rare variation. She created a mutational model to predict the expected number of newly arising (de novo) variants that has been leveraged to associate dozens of genes with autism spectrum disorders, congenital heart disease, and schizophrenia, among others. As a way to aid variant interpretation, Kaitlin developed metrics to measure a gene’s tolerance to mutational changes, including the pLI score that was used to identify thousands of genes intolerant to loss of a single functional copy. Additionally, she led an international consortium studying developmental disorders and identified ~300 significantly associated genes, including 28 that had not been robustly tied to these disorders.

Kaitlin received her A.B. in Biological Sciences with Honors and Phi Beta Kappa in 2010 from the University of Chicago, and her Ph.D. in Genetics and Genomics in 2016 from Harvard University. She trained as a postdoctoral fellow at the Wellcome Sanger Institute and was a College Research Associate at St. John’s College, Cambridge.

Twitter/X/Bluesky: @ksamocha