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Amy E. Roberts

M.D.

Director, Cardiovascular Genetics Research Program

Boston Children’s Hospital Associate Professor of Pediatrics

Harvard Medical School

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.

Amy E. Roberts

M.D.

Director, Cardiovascular Genetics Research Program

Boston Children’s Hospital Associate Professor of Pediatrics

Harvard Medical School

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.

Recent Publications

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease

Published On 2023 Jan 26

Journal article

CONCLUSIONS AND RELEVANCE: The study findings suggest neurodevelopmental outcomes are not associated with dDNVs as a group but may be worse in individuals with dDNVs and/or pLOFs in some gene sets, such as chromatin-modifying genes. Future studies should confirm the importance of specific gene variants to brain function and structure.


Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

Published On 2022 Nov 30

Journal article

Gene variants that dysregulate signaling through the RAS-MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi-system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications. To investigate clinical presentation, treatment outcomes, and genotype-phenotype associations in CFCS patients with IESS, molecular genetics and clinical neurological history were reviewed across two large clinical research cohorts (n = 180)....