Anne O’Donnell-Luria

Anne O’Donnell-Luria, MD, PhD, is an Assistant Professor in Pediatrics at Harvard Medical School and Institute Member at the Broad Institute of MIT and Harvard. She is the co-director of the Broad Institute Center for Mendelian Genomics and also leads a research lab, both of which focus on helping every person with a genetic disorder receive a diagnosis by developing and applying methods and technologies to better recognize pathogenic genetic variants among the largely benign variation found in our genomes. She collaboratively works on a number of projects including GREGoR (Genomics Research to Elucidate the Genetics of Rare diseases) consortium, the Rare Genomes Project, the Genetic Prevalence Estimator (GeniE), the Genome Aggregation Database (gnomAD), the NeuroDev project, and the Clinical Genome Resource, co-chairing the Gene Curation Expert Panel on Syndromic Disorders. She is also a practicing clinical genetics and metabolic physician at Boston Children’s Hospital where she cares for undiagnosed patients along with patients with chromatin disorders such as ODLURO and Kleefstra syndromes.