April 22, 2019 – David T. Miller, MD, PhD, FAAP, Debra Freedenberg, MD, PhD, FAAP, Elizabeth Schorry, MD, Nicole J. Ullrich, MD, PhD,David Viskochil, MD, PhD, Bruce R. Korf, MD, PhD, FAAP Neurofibromatosis type 1 (NF1) is 1 of the most common inherited genetic conditions, affecting approximately 1 in 3000 individuals.1 NF1 is a multisystem […]
Latest NFNE Medical & Science News & Information
Gene Therapy paper published in NATURE
Authors: Sherif G. Ahmed, Abdelanabi Ahmed, Mohamed Doha, Gary J. Brenner “Schwannoma gene therapy by adeno-associated virus delivery of the pore-forming protein Gasdermin-D” Abstract Schwannomas are peripheral nerve sheath tumors associated with three genetically distinct disease entities, namely sporadic schwannoma, neurofibromatosis type-2, and schwannomatosis. Schwannomas are associated with severe disability and in cases lead to […]
Marker for skin tumors has been found
“For the first time we have a mouse model that develops different types of neurofibromas inside the body and on the skin, just like in humans. Because of this model, we now know the exact origin of these two types of tumors. If you know where the tumor begins, and you know the end […]
Clinical Care Guidelines for Adults with NF1
A group of experts has concluded years of work to develop clinical care guidelines for adults with NF1. The results have been published by Genetics in Medicine, and are officially sponsored by the American College of Medical Genetics. “Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical […]
Resiliency for NF Study
Are you feeling stressed? Are your NF symptoms bothersome? The Family Center for Neurofibromatosis and the Integrated Brain Health Clinical and Research Program (IBHCRP) at the Massachusetts General Hospital are conducting a research study to compare 2 programs that teach stress and symptom management skills for adults with NF1, NF2, or schwannomatosis. The Department of […]
