Anne O’Donnell-Luria, M.D., Ph.D.

Anne O'Donnell-Luria is co-director of the Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, where she is an institute member. She is also an assistant professor of pediatrics at Harvard Medical School, a faculty member in the Division of Genetics and Genomics at Boston Children's Hospital, and an associate member of the Center for Genomic Medicine at Massachusetts General Hospital. Her laboratory within the Translational Genomics Group focuses on using large-scale genomic and transcriptomic approaches to increase the rate of rare disease diagnosis through improving rare variant interpretation and empowering the discovery of novel disease genes. She is particularly interested in how we can leverage gnomAD, a massive reference population database, in these efforts including in estimating rare disease prevalence. She also studies incomplete penetrance of genetic conditions, or why only some people with a disease-causing genetic variant will develop symptoms.

In addition to co-directing the Center for Mendelian Genomics with Heidi Rehm and Michael Talkowski, O'Donnell-Luria has leadership roles in the GREGoR (Genomics Research to Elucidate the Genetics of Rare Disease) consortium, Genome Aggregation Database (gnomAD), the NeuroDev project, AnVIL, and the Clinical Genome Resource (ClinGen) where she co-chairs the Gene Curation Expert Panel on Syndromic Disorders.

O’Donnell-Luria is also a practicing clinician at Boston Children’s Hospital (BCH), where she runs a clinic focused on evaluating families with epigenomic disorders such as Kleefstra and KMT2E-related neurodevelopmental syndromes. Her research has been recognized by the David W. Smith Peter Duncan Award (2015), the HMS Hearst Fellowship (2019), and the William K. Bowes Jr. Award (2022).

O'Donnell-Luria received her B.S. in biological chemistry with a minor in mathematics from Tulane University before her M.D./Ph.D. training at Columbia University Medical Center. She completed the Boston Children's Hospital and Harvard Medical School (HMS) Combined Pediatrics-Genetics Residency Program and a medical biochemical genetics fellowship, also at HMS and Boston Children's Hospital. She received postdoctoral training in the MacArthur laboratory at the Broad Institute and MGH.

Contact Anne O’Donnell-Luria via email at odonnell@broadinstitute.org.