A diagnosis of neurofibromatosis (NF) introduces many uncertainties to children and their parents. Patients affected by these conditions are prone to developing benign and malignant tumors as well as learning and attention impairments, reduced physical coordination, seizures, headaches, scoliosis, bone deformities, cardiovascular problems and loss of hearing and sight.
Washington University School of Medicine in St. Louis is home to an internationally renowned center for multidisciplinary research of NF and comprehensive care of patients affected by it. Established in 2004 by David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor of Neurology, the university’s Neurofibromatosis Center focuses on accelerating the pace of scientific discovery and applying that research to the care of children and adults with NF.
Gutmann and other center leaders will host and be among the presenters at the Washington University Neurofibromatosis Center Symposium on May 16, which will bring patients, their family members and researchers from across the nation to the Medical Campus to learn about and discuss the latest insight into the diagnosis and treatment of NF.
The symposium will be from 9 a.m. to 5 p.m. at the Eric P. Newman Education Center.
Its keynote speakers will be Sean Morrison, PhD, director of the Children’s Medical Center Research Institute, the Mary McDermott Cook Chair in Pediatric Genetics at the University of Texas Southwestern, and a Howard Hughes Medical Institute investigator; and Jonathan A. Epstein, MD, the William Wikoff Smith Professor of Cardiovascular Research, chair of the Department of Cell and Developmental Biology and scientific director of the Penn Cardiovascular Institute at the Perelman School of Medicine at the University of Pennsylvania.
Morrison will discuss the impact of the NF1 gene on stem cell function in the developing brain, while Epstein will present data from fish models that reveal important roles for the NF1 gene in heart development.
Of the three forms of NF, NF1 is the most common, affecting 1 in 2,500 individuals worldwide. There is no cure for NF1, and its effects are difficult to predict.