About Us

Bruce D. Gelb, M.D. is the Dean for Child Health Research and Director and Gogel Family Professor of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He is Professor of Pediatrics and of Genetics and Genomic Sciences. Dr. Gelb completed a pediatric residency and pediatric cardiology fellowship at Babies Hospital of Columbia-Presbyterian Medical Center and Texas Children’s Hospital at the Baylor College of Medicine, respectively. He joined the faculty at Mount Sinai in 1991 after fellowship and has remained there since. He developed an extensive program in genomics/gene discovery for congenital heart disease, including ground-breaking work on the RASopathies. Dr. Gelb co-directs the Cardiovascular Genetics Program at Mount Sinai, where he evaluates and cares for numerous patients with a RASopathy.

Dr. Browning is a periodontist who has been in private practice since 2007. He received his Doctor of Dental Medicine Degree from the University of Kentucky in 2004. He then went on to complete a 3 year residency in periodontics and dental implant surgery at the University of Texas Health Science Center at San Antonio. He also received a Masters Degree at the University of Texas School of Biomedical Sciences while in his residency. Dr. Browning is a Diplomate of the American Board of Periodontology and is a frequent lecturer on the topic of dental implants. Dr. Browning has a teenage son with Noonan Syndrome and has been a dental consultant for the Noonan Syndrome Foundation since 2018.

Dr. Weaver is an Associate Professor of clinical Pediatrics in the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center. Dr. Weaver co-directs the CCHMC RASopathies Program as well as the CCHMC Cardiovascular Genetics clinic. Her clinical practice exclusively focuses on individuals with RASopathies (Noonan, Costello, and Cardiofaciocutaneous syndromes), Marfan and related syndromes, and congenital heart disease. The RASopathies Program encompasses a multidisciplinary clinic which includes specialists in genetics, neurology, endocrinology, cardiology, and gastroenterology who provide comprehensive, coordinated care for individuals of all ages with suspected or confirmed RASopathy diagnoses.

In addition to being a clinical geneticist, Dr. Weaver is also the Principal Investigator of a basic science lab. The Weaver Lab studies genetic etiologies and pathophysiology of human syndromes associated with cardiovascular and craniofacial anomalies. Dr. Weaver completed medical school at the University of Alabama-Birmingham followed by a combined pediatrics and genetics residency and clinical biochemical genetics fellowship at Cincinnati Children’s Hospital.

Pilar Magoulas is a certified genetic counselor and Associate Professor in the Department of Molecular and Human Genetics at Texas Children’s Hospital and Baylor College of Medicine. She received a Masters of Science degree in Genetic Counseling from Northwestern University in 2003. She currently works as a pediatric genetic counselor at Texas Children’s Hospital where she serves as the Manager of the Genetics clinic and Chief of the Division of Genetic Counseling. Pilar serves as Vice President for CFC International, support group for individuals with Cardio-facio-cutaneous syndrome, on the Scientific Advisory Council for the National Foundation for Ectodermal Dysplasias, and on Scientific Advisory Board for RASopathies Network USA. She is passionate about advocacy work and helping families throughout the genetic diagnostic process.

Dr. David Stevenson is a board-certified pediatrician and medical geneticist at Stanford University. He previously worked in the Division of Medical Genetics at the University of Utah before joining the faculty at Stanford University where he is a Professor of Pediatrics. He is currently the service chief for the Division of Medical Genetics at Stanford University and directs a RASopathy clinic where he sees patients with Noonan Syndrome. He has received grant funding from the NIH, Doris Duke Charitable Foundation, Thrasher Research Fund, and Department of Defense to investigate the musculoskeletal system in syndromes of the Ras/MAPK pathway. He is also actively involved in training medical genetics residents and is the Program Director for the Medical Genetics Residency Program at Stanford University. He has been actively involved in advocacy groups for various RASopathies including Noonan Syndrome.

Dr. Rene Pierpont is a pediatric neuropsychologist and clinical research investigator in the Department of Pediatrics at the University of Minnesota. In her clinical work, Dr. Pierpont conducts neuropsychological evaluations and consultations with children with complex medical and genetic conditions. Her research program investigates the role of genetics, medical complications, and therapies/treatments on neuropsychological outcomes in children with genetic disorders including Noonan Syndrome. Dr. Pierpont is passionate about partnering with patient communities to  develop better resources, guidelines, and avenues of care for children with rare diseases. Through participation in the Medical Advisory Board of the Noonan Syndrome Foundation, she hopes to contribute to maximizing the mental health and quality of life of individuals with Noonan Syndrome and their families.

Dr. Benjamin Briggs

I grew up in Maine where I went to the University of Maine and studied Chemistry. I then furthered my education at the University of Vermont Medical School. It was during my clinical rotation in Pediatrics during Medical School that I first became interested in bleeding disorders in Noonan syndrome. A mother of a patient with Noonan syndrome approached me before her daughter had surgery. She told me she was concerned about the associated bleeding risks for patients with Noonan syndrome and that this could be important for her daughter. She handed me some article abstracts to read and based on this information we diagnosed her daughter with Factor XI deficiency. Since then I have been interested in better understanding why patients with Noonan syndrome have bleeding issues. I completed my Residency in Pediatrics at the Naval Medical Center in San Diego and then completed my Fellowship in Hematology and Oncology at Rady Children’s Hospital/University of California-San Diego.

Dr. Roberts is trained in both clinical genetics and pediatrics. Her research focuses on genotype phenotype correlations in Noonan syndrome and other Rasopathies and Noonan syndrome gene discovery. She also is interested in genetic causes of congenital heart disease. Dr. Roberts is the Director of the Boston Children’s Hospital Cardiac Gene Project (BCH CGP), a registry and DNA repository for families affected by congenital heart disease. She is the director of clinical cardiovascular genetic research for the department. Her principal clinical activities involve a cardiovascular genetics clinic and inpatient consultation for children with a potential genetic cause of their congenital heart disease. Her interests include Noonan syndrome, CFC syndrome, Williams syndrome, hypoplastic left heart syndrome, 22q11 deletion syndrome and cardiomyopathy.