Anne O'Donnell-Luria, M.D., Ph.D.
Associate Director of the Center for Mendelian Genomics (CMG); Attending Physician in Genetics and MetabolismBroad Institute of MIT and Harvard; Boston Children's Hospital
Anne O'Donnell-Luria completed her M.D./Ph.D. training at Columbia University Medical Center, followed by the 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 is the Associate Director of the Center for Mendelian Genomics at the Broad Institute of MIT and Harvard and a practicing clinician at Boston Children’s Hospital (BCH) who runs a clinic focused on evaluating families with chromatin disorders (EpiChroma Clinic). Dr. O’Donnell-Luria is interested in using large-scale genomic approaches to increasing 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 massive reference population databases such as ExAC and gnomAD in these efforts. Dr. O’Donnell-Luria also studies why only some people with a disease-causing genetic variant will develop symptoms, which is known as incomplete penetrance of genetic conditions.