Dr. Eric Chin

Dr. Jaqueline Weissman is an assistant professor in the Department of Neurology, Kennedy Krieger Institute, Department of Pediatrics Johns Hopkins Hospital and Institute of Genomic Medicine at Johns Hopkins Hospital. She is also director of the Center for Tuberous Sclerosis and Related Disorder at Kennedy Krieger Institute. She focuses on genetic and epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits. Currently most of her research is centered around Kabuki Syndrome. Dr. Weissman received her B.A. with. Dr. Harris is rated as an Advanced provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Coffin-Lowry Syndrome, Galactosialidosis, and Odontotrichomelic Syndrome.

Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research. Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate. He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association. Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine, and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored 75 predoctoral and postdoctoral researchers. He has authored 282 original publications in peer-reviewed journals, 25 textbook chapters, and 239 abstracts, and has also delivered more than 440 lectures on Marfan syndrome and related genetic disorders. Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. Dr. Dietz is rated as an Advanced provider by MediFind in the treatment of CHARGE Syndrome. His top areas of expertise are Caudal Duplication, Neu Laxova Syndrome, Early Infantile Epileptic Encephalopathy, and Cardiomyopathy Hypogonadism Metabolic Anomalies.

After completing her bachelors of science degree in biochemistry from the City College of New York (CUNY), Dr. Smith-Hicks entered the Medical Scientist Training Program at Columbia University College of Physicians and Surgeons, where she obtained her M.D., Ph.D. in 2000. She trained in Pediatrics at the Albert Einstein College of Medicine and completed her Neurology and Pediatric Neurology training at the Johns Hopkins University School of Medicine in 2005. Dr. Smith-Hicks trained as a post-doctoral fellow in the Department of Neuroscience at Johns Hopkins University School of Medicine under the guidance of Dr. Paul Worley. She joined the faculty at Kennedy Krieger Institute in 2010 where she now sees patients with Autism Spectrum Disorder and Rett Syndrome, while conducting basic science research exploring disorders of learning and memory. Dr. Smith is rated as a Distinguished provider by MediFind in the treatment of CHARGE Syndrome. Her top areas of expertise are Rett Syndrome, Ruvalcaba Syndrome, Autism Spectrum Disorder, and Early Infantile Epileptic Encephalopathy.