Michael Talkowski, PhD, MGH Research Scholar Profile
MGH Research Scholars Program
The MGH Research Scholars Program was established to support early career researchers with innovative yet unproven ideas that have the potential to transform the future of medicine. Funded 100% through philanthropy, this program gives researchers the freedom and flexibility they need to follow the science wherever it leads. History has shown that brilliant scientists who are given free rein to explore new frontiers make the greatest, often unexpected, advances.
The Talkowski Lab studies the genetics of disorders affecting prenatal, neonatal, and early childhood development, particularly autism spectrum disorder (ASD) and related neurodevelopmental and psychiatric disorders.
Translational Genomics in the Laboratory and in the Clinic

Desmond and Ann Heathwood MGH Research Scholar 2015-2020
Associate Investigator, Center for Genomic Medicine, Massachusetts General Hospital
Associate Professor of Neurology, Harvard Medical School
The Talkowski Laboratory is interested in understanding the consequence 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 research program integrates a molecular genomics wet laboratory with a computational genomics group.
The lab is composed of undergraduate and graduate students, post-baccalaureate researchers, postdoctoral fellows, and senior staff scientists performing human genomic research in four primary domains:
- Delineation of genomic variation and genome biology
- Discovery of genes that can contribute to human disease when altered
- Functional genomic characterization of genetic lesions and the networks that they disrupt
- Translation of genomics technology development into new genetic diagnostic methods
53 Mass General Investigators Named Highly Cited Researchers of 2023
According to Clarivate Analytics’ Highly Cited Researchers Report
Research at Mass General
Every day, our clinicians and scientists chart new terrain in biomedical research to treat and prevent human disease and advance patient care.