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Anne O’Donnell-Luria


O'Donnell-Luria AH, Pais LS, Faundes V, et al. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Am J Hum Genet. 2019;104(6):1210-1222.

Carlston CM, O’Donnell-Luria AH, Underhill HR, et al. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. Hum Mutat. 2017;38(5):517-523.

Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285-91.

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 also an associate member and associate director of the Program in Medical and Population Genetics. 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 we can leverage gnomAD, a massive reference population database, in these efforts. She also studies why only some people with a disease-causing genetic variant will develop symptoms, which is known as incomplete penetrance of genetic conditions.

O’Donnell-Luria is also a practicing clinician who runs a clinic at Boston Children’s Hospital (BCH) focused on evaluating families with epigenomic disorders. Her training was supported by a Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship. Her research has been recognized by the David W. Smith Peter Duncan Award (2015), BCH Medical Staff Organization Faculty Innovated Research Award (2017), and HMS Hearst Fellowship (2019).

Prior to joining the Broad Institute in 2015, O'Donnell-Luria completed her M.D./Ph.D. training at Columbia University Medical Center, where her thesis work was on the role of DNA methylation in the pathophysiology of complex disease, particularly breast cancer and psychiatric disease. This was 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.

Contact Anne O’Donnell-Luria via email at

April 2020