JHU’s Neurofibromatosis Therapeutic Acceleration Program celebrated the 10th anniversary of its Francis S. Collins Scholars Program, an initiative that has led to research and treatment breakthroughs for the genetic condition neurofibromatosis type 1. Article featured on JHU’s HUB
Emily Gaines Buchler / Published Jul 15
It can spawn tumors throughout the nervous system and bone deformities that riddle the whole body with pain. One of the most common rare diseases in the world, the genetic condition neurofibromatosis type 1, or NF1, can cause a wide spectrum of mild to severe symptoms—all stemming from a single mutation on a solitary gene: the NF1 gene on chromosome 17.
A decade ago, many people with NF1 struggled to find an interdisciplinary team of clinicians to treat their complex condition, says Jaishri Blakeley, a neurology professor at the Johns Hopkins School of Medicine and executive director of the JHU-affiliated Neurofibromatosis Therapeutic Acceleration Program, or NTAP. Blakeley spearheaded a mission to change that, launching an ambitious training initiative in 2014 to build a global community of clinician-scientists who specialize in NF1. Read the rest of the article.