Anne O'Donnell-Luria

Dr. Anne O’Donnell-Luria is the Co-Director of the Broad Institute Center for Mendelian Genomics (CMG), she leads a team analyzing thousands of rare disease families to improve genetic diagnosis and novel disease gene discovery. Her research is focused on using large-scale genomics to understand the mechanisms of incomplete penetrance.

Dr. O’Donnell-Luria co-leads the EpiChroma clinic, A Genetics Clinic for Epigenetic and Chromatin Disorders, [2]http://epichromaclinic.com/. The EpiChroma clinic focuses on diagnosing and caring for children and families with disorders due to mutations in the DNA methylation or histone machinery. By working together with families, she hopes to improve patient management and increase research for these conditions, while educating providers and families about epigenetics and the associated conditions. She also sees patients with inborn errors of metabolism and other rare genetic conditions.

Dr. O’Donnell-Luria is trained in clinical genetics, biochemical genetics and pediatrics. She completed her MD/PhD training at Columbia University Medical School in New York. Her thesis research focused on the role of DNA methylation alterations in complex disease including cancer and neuropsychiatric 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. She further completed a Fellowship in Medical Biochemical Genetics at Boston Children’s Hospital.