Anne O’Donnell-Luria, MD, PhD

Dr. O’Donnell-Luria is Board-certified in clinical genetics, biochemical genetics and pediatrics. In addition to her role as co-director of the EpiChroma Clinic and Kleefstra Syndrome Clinics, she is an Attending in Genetics and Metabolism at Boston Children’s Hospital and an Assistant Professor in Pediatrics at Harvard Medical School. She is originally from Louisiana and moved to New York for her MD/PhD training at Columbia University Medical School. Her thesis research focused on the role of DNA methylation alterations in complex disease including cancer and neurologic disease. She became interested in rare disease during medical school, leading her to be the first to complete the Combined Pediatrics-Genetics Residency Training Program at Boston Children’s Hospital and Harvard Medical School and a Fellowship in Medical Biochemical Genetics.

As the Co-Director of the Center for Mendelian Genomics (CMG) at the Broad Institute of MIT and Harvard, she leads a team analyzing the genetic variants found in thousands of families affected with rare disease to improve genetic diagnosis and novel disease gene discovery. Families interested in participating in these research studies can join the Rare Genomes Project. 

Her research is focused on using large scale genomics to understand the molecular mechanisms of conditions involving epigenetic dysregulation of the chromatin machinery and incomplete penetrance. 

To view her Harvard Catalyst profile, click here.