Anne O’Donnell Luria

Anne O’Donnell-Luria is co-director of the Mendelian Genomics Research Center at the Broad Institute of MIT and Harvard, where she is an associate member as well as the associate director of the Program in Medical and Population Genetics. 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 affiliated faculty in the Analytic and Translational Genetics Unit at Massachusetts General Hospítal. Her research group at Boston Children's Hospital and the Broad focuses on using large-scale genomic and transcriptomic 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 they 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.