Anne O’Donnell Luria, M.D., Ph.D.

Researcher, Boston Children’s Hospital
Attending Physician, Division of Genetics and Genomics, Harvard Medical School

SPARK Scientific Advisory Board Website

Anne O’Donnell-Luria is a researcher at Boston Children’s Hospital, Harvard Medical School and an associate member of the Broad Institute of MIT and Harvard. Her research focuses on understanding of the impact of rare variants in monogenic phenotypes to improve rare disease diagnosis; gene discovery; and the mechanisms of incomplete penetrance. She is the co-director of the Broad Institute Center for Mendelian Genomics where she works with an international group of collaborators and a team of genomic analysts to discover novel disease-gene relationships. Luria founded the EpiChroma Clinic, focused on caring for children with neurodevelopmental conditions involving genes important for chromatin formation and regulation.

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