The Pediatric Neurogenetics program in the Department of Neurology at Indiana University School of Medicine specializes in the diagnosis of neurological disorders via clinical evaluation and expanded genetic testing, particularly next generation and whole exome sequencing. The clinic at Riley Hospital for Children, staffed by a pediatric neurogeneticist, genetic counselor, and a neurodevelopmental pediatrician, facilitates treatment of those disorders for which interventions are available. Given the exponential progress made in the diagnosis and, in some cases, treatment of genetic disease, expansion of genetic services is a vital and ongoing part of the section.
The Neurofibromatosis Clinic at Riley is the only clinic for comprehensive care of those with neurofibromatosis in the state of Indiana. Neurofibromatosis researchers have been leaders in investigating the molecular basis of neurofibromatosis and developing new treatment options based on the work. For example, researchers discovered that the anti-cancer drug Gleevec could be used as a therapy in neurofibromatosis type 1, making it the first effective treatment for the tumors affecting many NF1 patients.