Amy E. Roberts, MD

Gene discovery.

Dr. Roberts’s early work focused on gene discovery for one of the Rasopathies, Noonan syndrome (NS), a multiple congenital anomaly disorder that is the second most common genetic cause of congenital heart disease in children after Trisomy 21. Over the last 14 years, there has been a rapid evolution in our understanding of the molecular genetic causes of Noonan syndrome, with nine genes now identified, explaining approximately 80% of cases. These discoveries have enabled the widespread use of next-generation sequencing testing by clinicians for earlier and more exact diagnosis. For more than 10 years Dr. Roberts has followed a cohort of over 200 individuals with NS for the purpose of genotype-phenotype analysis. She has also investigated the influence of these gene mutations on learning, memory and long-term outcomes. This work has informed anticipatory management guidelines published for clinicians caring for children and adults with this diagnosis.

Dr. Roberts is Director of the Cardiovascular Genetics Research Program. and is an Attending Physician in Genetics and Cardiology and sees patients at Boston Children’s Hospital.

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