MEDICAL ADVISORY BOARD
Emma burkitt-wright, MBChB, Phd, frcp
consultant clinical geneticist
Manchester center for genomic medicine
Dr. Burkitt-Wright is a consultant clinical geneticist in the Manchester Centre for Genomic Medicine, and honorary senior lecturer at the University of Manchester. Her PhD on germline disorders of the Ras-MAPK pathway, funded by a Wellcome Trust clinical research training fellowship, was awarded in 2014 and focussed on CFC syndrome. The majority of her clinical commitments revolve around Ras-MAPK pathway disorders, with clinics for patients with Cardiofaciocutaneous, Noonan and Costello syndromes and within Manchester’s multidisciplinary NHS nationally commissioned highly specialised service for patients with complex neurofibromatosis type I.
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 Catholic 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.
Daniel Kenney-Jung, M.D.
Assistant Professor, Neurology
Duke University, North Carolina
Daniel Kenney-Jung received his MD from Tufts University School of Medicine in 2009. He did residency in pediatric neurology at the Mayo Clinic, and fellowships in clinical neurophysiology, pediatric epilepsy and epilepsy research also at Mayo Clinic. He is currently an assistant professor of neurology at Duke University in North Carolina, primarily seeing patients with epilepsy, neurogenetic and neurodegenerative disorders.
Joseph Levy, M.D.
Professor of Pediatrics, Division of Gastroenterology, NYU Langone Medical Center
Most recently Dr. Joseph Levy was the Director of the Gastroenterology Division at NYU Langone Medical Center in NYC and is currently an attending gastroenterologist in that program. He was the former Director of the Clinical GI Service at the Babies Hospital, Columbia Presbyterian Medical Center and also the Director of the Neurogastroenterology service at that institution.
In addition to his interest in the gastrointestinal dysfunctions of children on the autism spectrum and in those with underlying neuro-muscular conditions, Dr. Levy has focused his practice on the broad range of immune-mediated conditions affecting the GI tract, including food allergies, celiac disease, Crohn disease and colitis, and more recently, eosinophilic esophagitis, a chronic, protein-induced inflammation of the esophagus.
In addition to over fifty publications in peer reviewed journals and various chapters in medical textbooks, he is the author of A Practical Approach to Pediatric Gastroenterology and My Tummy Hurts: a guide for parents and caregivers.
Dr. Levy is a member of the American Gastroenterology Association and of the International Committee of NASPGHAN, the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. He is board certified in pediatric gastroenterology by the American Board of Medical Specialties.
Carlos E. Prada, MD
Head of Genetics, Birth Defects and Metabolism at lurie children’s hospital of chicago
Valerie and George D. Kennedy Research Professorship in Human Molecular Genetics
Associate Professor of Pediatrics (Genetics, Birth Defects, and Metabolism), Northwestern University Feinberg School of Medicine
Dr. Prada is internationally regarded as an outstanding clinician, researcher, and mentor.
He received his medical degree at the Universidad Industrial de Santander in Bucaramanga, Colombia. He completed his residency in Pediatrics and Medical Genetics and fellowship in Clinical Biochemical Genetics at Cincinnati Children's Hospital Medical Center. He also completed his postdoctoral fellowship in cancer genetics research at the University of California, San Diego.
Dr. Prada serves as the Director of the Center for Medical Genomics and Metabolism for the Cardiovascular Foundation of Colombia. He is the previous Director of the Rasopathy Clinic at Cincinnati Children’s Hospital.
Katherine (Kate) Rauen, M.D., 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, M.D.
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 Gene Reviews 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.