Amy E. Roberts, M.D.

Amy Roberts, M.D. received her undergraduate degree in Biology and Women’s Studies from Swarthmore College and her medical degree from Dartmouth Medical School. During her pediatrics residency at the University of Massachusetts Medical School she became interested in clinical genetics and worked with Laurie Demmer, M.D. studying primary care physicians’ knowledge of the ethics of genetic testing. Following her residency, Dr. Roberts was accepted into the Harvard Medical School Genetics Training Program. In her second year of training she began to work with her research mentor, Raju Kucherlapati, Ph.D., on a genotype-phenotype correlation study for children and adults with a cardiovascular disorder, Noonan syndrome. A multi-center research protocol was established to recruit patients from across the country and around the world. Upon completion of her genetics training, Dr. Roberts joined the Cardiovascular Genetics Program in the Department of Cardiology at Children’s Hospital Boston and continues her Noonan syndrome research. She is board certified in both pediatrics and medical genetics. Her clinical practice includes children with heart disease and a broad range of genetic diagnoses including cardiomyopathy and Williams, Noonan, Cardiofaciocutaneous, Velocardiofacial, Ehlers Danlos, Marfan, Alagille, and Turner syndromes. Dr. Roberts also serves as a clinical geneticist at the Harvard-Partners Center for Genetics and Genomics and as associate physician and instructor in medicine at Brigham and Women’s Hospital. Dr. Roberts received the 2006 John M. Opitz Young Investigator Award for a research paper investigating the clinical presentation of children with subtelomeric chromosomal deletions and duplications. Dr. Roberts was the lead author of a paper published in 2007 that describes that mutations in the SOS1 gene are responsible for a significant proportion of cases of Noonan syndrome.