TSRI professor receives $2 million grant to study neurofibromatosis type I

May 31, 2017

Assistant Professor Seth Tomchik of the Florida campus of The Scripps Research Institute (TSRI) has received $2 million in funding from the National Institutes of Health’s National Institute of Neurological Disorders and Stroke (NINDS). The new five-year grant funding will support the study of neurofibromatosis type I, an inherited disorder that results from genetic mutations affecting a protein called neurofibromin (Nf1).

There is currently no FDA-approved treatment for neurofibromatosis 1. The disease begins in childhood with symptoms ranging from harmless spots to nerve tumors. It also predisposes individuals to a suite of behavioral symptoms, including attention-deficit/hyperactivity disorder (ADHD), autism-like symptoms, learning disabilities and chronic pain. The prevalence of behavioral symptoms suggests that Nf1 can affect the development or function of neurons in the brain that regulate activity levels.