Anne O’Donnell-Luria

Associate Professor and Attending Physician · Boston Children’s Hospital · company speakers →

Anne O’Donnell-Luris is a pediatric clinical genetic and biochemical genetic physician-scientist at Boston Children’s Hospital and the Broad Institute. Dr. O’Donnell-Luria specializes in the clinical management of chromatin disorders. She leads a research laboratory that focuses on genomics and other omics approaches to increase rare disease diagnosis through improved variant classification and interpretation and the discovery of novel gene-disease relationships. She also studies the mechanisms of incomplete penetrance. She is involved in several consortia projects, including GREGoR, gnomAD, ClinGen (Computational Working Group and Syndromic Disorder Gene Curation Expert Panel co-chair), NeuroDev, and Chromatin Clinics consortia. She has a particular interest in advising clinicians and scientists on career development in human and clinical genetics.

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