Director Center for Genomic Medicine, Massachusetts General Hospital

Investigator, Assoc Prof (M) Center for Genomic Medicine, Mass General Research Institute

Associate Professor of Neurology Harvard Medical School

Desmond and Ann Heathwood MGH Research Scholar 2015-2020 Mass General Research Institute, Massachusetts General Hospital

Institute Member Broad Institute

autistic disorder; child development disorders pervasive; chromosome aberrations; chromosome disorders; chromosome inversion; chromosomes human; developmental disabilities; dna copy number variations; gene rearrangement; pair 16; polymorphism genetic; schizophrenia; segmental duplications genomic

The Talkowski Laboratory is seeking to understand the impact of genomic variation on human disease. We study the genetic etiology of disorders affecting prenatal, neonatal, and early childhood development, particularly autism spectrum disorder (ASD) and related neurodevelopmental and psychiatric disorders. Our group is particularly interested in alterations to the structure of the genome (structural variation) across human populations and its functional consequences in disease.

Our research program involves an integrated computational genomics and molecular genomics group that is composed of undergraduate and graduate students, post-baccalaureate researchers, postdoctoral fellows, and senior staff scientists performing human genomic research in four primary domains:

1. Defining genomic variation and alterations to genome structure across diverse human populations
2. Discovery of genes contributing to human disease, with focus on neuropsychiatric disorders and congenital anomalies
3. Functional genomic studies to identify altered networks and molecular signatures associated with disease 
4. Translation of genomics technology development into new diagnostic methods for prenatal and pediatric genetics