The Talkowski Lab is generally seeking to understand how genomic variation influences disease. We study variation within individuals and create maps of varaition across populations, then try to determine if specific variants confer risk for disease, with a particular focus on structural rearrangements of the genome and how they influence prenatal, neonatal, and early childhood development, such as autism spectrum disorder (ASD).

To accomplish these goals, we have a large computational genomics group that can process hundreds of thousands of genomes in cloud-based compute environments, and a molecular genomics group that works in the wet lab to engineer pluripotent stem cells with specific mutations observed in patients. These computational and molecular groups are fully integrated with each other, and are often co-leaders of many projects as we try to find variation, determine how it operates to cause disease, and explore whether we can pursue therapeutics to correct these mechanistic changes. research program integrates a molecular genomics wet laboratory with a computational genomics group.

Our team is comprised of graduate students, post-bac researchers, postdoctoral fellows, and senior staff scientists. We are ALWAYS interested in enthusiastic new postdoctoral candidates and often have staff positions posted. We are a part of the Center for Genomic Medicine at Massachusetts General Hospital and have primary affiliations with Harvard Medical School and the Broad Institute of MIT and Harvard.