NF1 research

New Clinical Trial Offers Hope for Adults with NF1 and cNF

September 17, 2025

Every person living with neurofibromatosis type 1 (NF1) has a story—and nearly all of those stories include cutaneous neurofibromas (cNFs). These benign tumors of the skin may not pose a life-threatening risk, but for the […]

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Dr. Jaishri Blakeley

Pipeline of experts advances discovery in neurofibromatosis

July 27, 2025

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.

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New Scholars Program to Support Early-Career NF1 Laboratory Scientists

July 7, 2025

In response to a critical funding gap affecting the NF1 research community, the Neurofibromatosis Therapeutic Acceleration Program (NTAP) has launched a new training initiative: the NF1 Basic and Translational Laboratory Scholars Program. This program is […]

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Ras Signaling Gone Awry: New Research Published on the Role of Ras in Cutaneous Neurofibroma Pathogenesis

May 27, 2023

The first manuscript from the NTAP 2022 Cutaneous Neurofibroma Symposium was published digitally by the Journal of Investigative Dermatology today. The paper RAS Signaling Gone Awry in the Skin: The Complex Role of RAS in […]

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FDA Approves First Therapy for Children with Debilitating and Disfiguring Rare Disease

April 27, 2020

For Immediate Release: April 10, 2020 Today, the U.S. Food and Drug Administration approved Koselugo (selumetinib) for the treatment of pediatric patients, 2 years of age and older, with neurofibromatosis type 1 (NF1), a genetic […]

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Koselugo (selumetinib) approved in US for paediatric patients with neurofibromatosis type 1 plexiform neurofibromas

April 13, 2020

News Release Regulatory News Service 13 April 2020 07:00 BST First medicine approved to treat this rare and debilitating genetic condition AstraZeneca and MSD Inc., Kenilworth, N.J., US (MSD: known as Merck & Co., Inc. […]

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In NIH trial, selumetinib shrinks tumors, provides clinical benefit for children with NF1

March 18, 2020

NCI Press Release, Posted: March 18, 2020, Contact: NCI Press Office  240-760-6600 Dr. Brigitte Widemann with Travis Carpenter, who received selumetinib for NF1 at NIH. Credit: National Cancer Institute Findings from a phase 2 clinical trial show […]

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Driving NF1 Research: High Quality, Clinically Annotated Tissue and biospecimen materials Available from the Johns Hopkins NF1 Biospecimen Repository

February 25, 2019

Patient derived tissues are a critical tool to support the ongoing research that improves our understanding of disease formation mechanisms, and helps drive the discovery of new therapeutics.  As part of its commitment to providing […]

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Data Available to Accelerate Development of Therapies for Neurofibromatosis Type 1 Plexiform Neurofibromas

October 22, 2018

For Release: October 2018 Neurofibromas are tumors of the nerve that are found most commonly in people with neurofibromatosis type I (NF1). NF1 is a neurogenetic disease with an estimated prevalence of 1/2500-1/3000.  A type […]

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Cutaneous Neurofibromas Initiative Outlines Current Biology and Path Forward for Clinicians and Scientists

July 13, 2018

July 10, 2018: One of the hallmarks of the complex syndrome Neurofibromatosis type 1 (NF1) are cutaneous neurofibromas (cNF).  cNF are tumors involving the skin that affect up to 99 percent of adults with NF1.  […]

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