Medical Advisory Board

Bruce D. Gelb, M.D.

Director, Mindich Child Health and Development Institute, Professor, Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.

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. Dr. Gelb directs the Cardiovascular Genetics Program at Mount Sinai.

Since Dr. Gelb’s discovery of the first gene for Noonan syndrome in 2001, he has been deeply engaged with the RASopathies, both clinically and through research. He has attended many family support meetings, including performing medical consults for CFC families during the past four summer meetings. His research efforts are focused on discovering the missing genes for RASopathies and finding therapies for these disorders

Maria Ines Kavamura, M.D., PhD

Researcher and Dermatologist, Medical Genetic Center, UNIFESP, Sao Paulo, Brazil.

Dr. Kavamura was born and educated in Brazil. She received her medical degree from Escola Paulista de Medicina - Federal University of Sao Paulo, Brazil and did her residency training in dermatology. She has worked with the Department of Genetics, studying genetic skin diseases and skin disorders in other genetic diseases, since 1994. She received her Master’s Degree in Dermatology (1998) studying clinical manifestations of the CFC syndrome and created the CFC Index, for the diagnosis of CFC syndrome. She received her Ph.D. in Medicine (2003) studying molecular and cytogenetics aspects of the CFC syndrome for the work developed at the Catolic University in Rome, Italy. She has been a researcher in Genetics and Dermatology at Federal University of Sao Paulo, since 2003.
She continues working with CFC, Costello and Noonan patients, treating skin manifestations and observing the natural history of these syndromes. She has also been studying the neuropsychological profile of CFC.

In the past couple of years she has been working with families of CFC children in Brazil to help them create a Brazilian Family support group.

Mary Ella Pierpoint, M.D., PhD

Professor of Pediatrics and Ophthalmology, University of Minnesota, Research Associate Children’s Hospital and Clinics of Minnesota

Dr. Pierpont is one of a few individuals trained in both clinical genetics and pediatric cardiology. She received a Ph.D. in Genetics from the University of North Carolina, Chapel Hill and an M.D. from the University of Miami, Florida. She completed a residency in pediatrics and a genetics fellowship (Georgetown University and University of Minnesota) as well as a fellowship in pediatric cardiology (University of Minnesota). Dr. Pierpont has had a longstanding interest in cardiovascular genetics and cardiac problems in syndromes. She has seen patients in a Cardiovascular Genetics clinic for over 25 years at the University of Minnesota and the Children’s Hospital of Minnesota. Children seen in these clinics have both a heart condition and either a genetic or syndrome diagnosis. She is particularly interested in disorders of the Ras/MAPK pathway including CFC (cardiofaciocutaneous syndrome), Noonan syndrome, Noonan-related syndromes and Costello syndrome. Dr. Pierpont is also conducting a large study of cardiac disorders in CFC syndrome.

Katherine (Kate) Rauen, MD, PhD

Chief, Division of Genomic Medicine, Professor, Department of Pediatrics, Albert Holmes Rowe Endowed Chair in Human Genetics II, UC Davis, Sacramento, CA.

Dr. Rauen received a MS in Human Physiology and a PhD in Genetics from UC Davis doing research on gene dosage compensation and genetic evolution. She obtained her MD at UC Irvine where she also did research in cancer genetics. Dr. Rauen did her residency training in Pediatrics and fellowship in Medical Genetics at UC San Francisco.

Dr. Rauen is internationally known for her pioneering work in the early application of microarray technology in clinical genetics and as a leader and major contributor to the understanding of the “RASopathies”, the Ras/MAPK pathway genetics syndromes. Her research program involves the clinical and basic science study of cancer syndromes with effort to identify underlying genetic abnormalities affecting common developmental and cancer pathways. Dr. Rauen led the research team, including the CFC International Family Support Group,that discovered the genetic cause of cardio-facio-cutaneous syndrome.

Dr. Rauen is committed to academic medicine, medical education, and advancing best practices for patients with RASopathies. She has successfully obtained both intramural and extramural funding for her research activities, and currently holds a 5-year NIH grant studying skeletal myogenesis in Costello syndrome and CFC. She is the innovator of the world-renowned NF/Ras Pathway Clinic which she initiated in 2007 and this clinic has now been emulated around the globe.

Amy Roberts, M.D.

Director, Cardiovascular Genetics Research Program, Boston Children’s Hospital, Associate Professor of Pediatrics, Harvard Medical School, Boston, Massachusetts

Dr. Roberts received her undergraduate degree at Swarthmore College, attended Dartmouth Medical School, and then completed a pediatrics residency at the University of Massachusetts followed by a medical genetics residency at Harvard. Dr. Roberts is a medical geneticist with a clinical and research focus on cardiovascular genetics. Her particular areas of expertise are gene discovery, genotype phenotype correlations, and the management/treatment of the RASopathies. Dr. Roberts’ research has led to the discovery of several genes that cause Noonan syndrome.

Suma P. Shankar, M.D.. PhD

Associate Professor, Department of Pediatrics, Division of Genomic Medicine at the UC Davis Medical Center

Dr. Shankar was recently recruited to UC Davis to serve as the Director of Precision Genomics and will lead the effort of integrating genomics into every day clinical practice within the UC Davis Health System. She will unify genomic medicine within multiple specialties in both pediatric and adult medicine for Mendelian disorders and other complex medical conditions. She is a physician-scientist, board certified in Medical Genetics (FACMG) and in Ophthalmology (MRCOphth & FRCS, United Kingdom). She obtained her PhD and completed a Pediatric Ophthalmology fellowship from the University of Iowa, and a Medical Genetics fellowship from the University of California, San Francisco. She was faculty in the Departments of Human Genetics and Ophthalmology at Emory University, School of Medicine, Atlanta, GA where she initiated the Ocular Precision Health Initiative which included a BioBank and genetic studies for inherited eye diseases; the first of its kind in Georgia. She served as Medical Director for the Emory Genetics Laboratory and was the principal investigator on a number of clinical trials investigating novel therapies for rare genetic disorders. She has a number of publications and book chapters on genetic testing, ocular genomics, novel enzyme replacement, substrate and chaperone therapies. Her chief research interests include gene discovery projects and translational research for inherited diseases.

She is leading the “Ocular Predictive Heath Initiative” project with a goal of establishing a database and DNA bank for inherited and complex eye diseases with genetic etiology at Emory.

David A. Stevenson, MD

Associate Professor, Division of Medical Genetics, Stanford University, California

Dr. Stevenson completed his residency in Pediatrics at the University of New Mexico and a 3-year fellowship in medical genetics at the University of Utah. He was on faculty at the University of Utah for 10 years before joining the faculty in the Division of Medical Genetics as an Associate Professor at Stanford University. His initial research focused on neurofibromatosis type 1 (NF1), and since that time he has expanded his research to RASopathies focusing on the musculoskeletal problems and genotype-phenotype correlations. 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 has published over 80 scientific articles, and 2 GeneReviews focused primarily on Ras/MAPK syndromes. Dr. Stevenson first attended the CFC conference in Chicago, Illinois and has attended all the conferences since that time.