Pipeline of Experts Advances Discovery in Neurofibromatosis

Author: Emily Gaines Buchler

Published On: 07/15/25

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.

On June 20, Blakeley and the neurofibromatosis community celebrated the 10-year anniversary of the initiative, known as the Francis S. Collins Scholars Program in Neurofibromatosis Clinical and Translational Research. The program is named for the physician-scientist and longtime director of the National Institutes of Health who discovered the NF1 gene in 1990 and led the NIH team responsible for mapping the human genome. The event took place at the Whittemore House in Washington, D.C., and paid homage to the program's many successes, while enabling scholars and other clinician-scientists to discuss their work, form new partnerships, and troubleshoot difficulties relating to the federal government's pauses and cuts to medical research funding.

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