Harvard Catalyst Profiles

Columbia University College of Physicians and Surgeons, New York, NY	MD, PhD	2011	Epigenetics
Boston Children's Hospital / Harvard Medical School, Boston, MA		2017	Combined Peds-Genetics Residency
Boston Children's Hospital, Boston, MA		2016	Medical Biochemical Genetics Fellowship

Anne O'Donnell-Luria is an Assistant Professor in Pediatrics at Harvard Medical School who leads a research group at the Broad Institute and Boston Children’s Hospital with close ties to Massachusetts General Hospital. Her group research focuses on using large-scale genomic and transcriptomic approaches to increase the rate of rare disease diagnosis through improving rare variant interpretation, empowering the discovery of novel disease genes, and understanding the mechanisms of incomplete penetrance. With Heidi Rehm and Michael Talkowski, she co-leads the Broad Center for Mendelian Genomics and the Rare Genomes Project focused on discovering novel disease genes. She has leadership roles in a number of projects including Genome Aggregation Database (gnomAD), NeuroDev project, and AnVIL. She is also a practicing clinician who runs the EpiChroma clinic at Boston Children’s Hospital (BCH) focused on evaluating families with Mendelian chromatin disorders such as Kleefstra syndromes (EHMT1 and KMT2C) and ODLURO syndrome (KMT2E).

Prior to joining the Broad Institute in 2015, O'Donnell-Luria completed her M.D./Ph.D. training at Columbia University Medical Center followed by the Five-Year Boston Children's Hospital and Harvard Medical School Combined Pediatrics-Genetics Residency Program and an additional year of clinical training in medical biochemical genetics. She completed her postdoctoral training in the MacArthur laboratory at the Broad Institute.

• Genomics
• Rare Disease
• Gene Discovery
• Penetrance
• Variant Interpretation
• Population Databases