Dr. Charles Schwartz has served in a number of capacities as a research scientist throughout his career. He served for 14 years as the Director at J.C. Self Research Institute at the Greenwood Genetic Center in Greenwood, SC, and most recently as Senior Research Scholar. He has been affiliated with 8 professional memberships and has published 368 scientific journal articles and 13 books. He has conducted extensive research focused on the causes of X-linked intellectual disabilities, birth defects, and autism. In collaboration with Tony Pegg, PhD, Schwartz discovered that a defect in Spermine Synthase results in Snyder-Robinson Syndrome (2003). He is currently collaborating with Grace Zhai, PhD to define neurotoxicity induced by polyamine metabolic dysregulation. Dr. Schwartz is the Chair of the Medical and Scientific Advisory Board for the Snyder-Robinson Foundation.
Medical & Scientific Advisory Board
Dr. Mary Jo Kutler is a general pediatrician who founded and served as the medical director of Ahwatukee Pediatrics, PC in Phoenix, Arizona for 26 years. She graduated from NYIT College of Osteopathic Medicine and completed her pediatric residency at Phoenix Children’s Hospital / Maricopa Medical Center. She has been active in precepting third and fourth year medical students for their general pediatric rotations since 1994. Mary Jo has a passion for the special needs patient with complicated medical requirements, and as a result her practice included caring for these children. She was known in the community for her expertise, attention to detail and her ability to navigate challenges faced by this unique patient population and their families. She was acutely involved in the care of two brothers with Snyder-Robinson Syndrome for 24 years, and has developed an in-depth understanding of issues faced by SRS patients. Mary Jo is also the Principle Investigator for the Foundation’s Natural History Study, which will help to better characterize and understand SRS.
Dr. Tony Pegg is Evan Pugh Professor of Cellular and Molecular Physiology Emeritus, Pennsylvania State University College of Medicine. He has extensive experience in research into the synthesis, metabolism and functional significance of polyamines. He has published more than 300 papers in this field dating back to the mid-1960s when he characterized all of the enzymes in the mammalian polyamine biosynthetic pathway including spermine synthase, the enzyme defective in SRS. More recently, his laboratory published studies on the structure and mechanism of the human spermine synthase and collaborated with Charles Schwartz in studies showing the defective activity of this enzyme in cells derived from SRS patients and the altered polyamine ratios in these cells. His group also published papers describing the altered physiology in a mouse strain with a chromosomal deletion of part of the X chromosome that includes the gene for spermine synthase.