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.
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.
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.
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)....
