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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 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 Hospital. 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 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 Mendelian Genomics Research Center with Heidi Rehm and Michael Talkowski, O'Donnell-Luria has leadership roles in the Genome Aggregation Database (gnomAD) Consortium, 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 Syndrome. 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 (2020).

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

August 2021