About NF
Neurofibromatosis, also known as NF, is a genetic disorder that causes tumors to grow on nerve pathways anywhere in the body. There are three types of neurofibromatoses – NF1, NF2, and Schwannomatosis. Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide. It is more common than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease combined. Neurofibromatosis occurs in both sexes and in all races and ethnic groups and there is no known cure for NF.
NF can be inherited or can be the result of a spontaneous gene mutation. Roughly 50% of cases are passed down from parents and 50% are the result of spontaneous gene mutation. NF1 is usually diagnosed in childhood. It manifests very differently from person to person, including in biological siblings. At present, there is no way to predict who will develop which features of the disease and how severe those features will be.
The most common trait with NF1 are multiple café-au-lait (light brown) skin spots, freckling in the armpits or groin, and/or neurofibromas (small benign growths) on or under the skin. About 50% of people with NF1 also have learning challenges. Tumors may develop in the brain, on the spinal cord, and/or on nerves all throughout the body. While NF1 tumors are generally not cancerous, they may cause significant deformities and health issues such as blindness. Sometimes benign NF1 tumors do become malignant.
While research on NF has been historically underfunded, over the past few decades, there have been significant insights into better understanding the disease. Advances in new technologies such as gene therapy and mutation suppression give hope to the idea that it will be possible to find a cure for NF.
NF Resources
NF Registry at the Childrens Tumor Foundation
Upcoming Projects
We could not be more grateful to our generous sponsors, donors, and ALL of you who have supported us in our mission to #ENDNF. Your funding will continue to support the critical research needed in the NF field and enable upcoming projects including…
Penny's Flight-sponsored Banbury Meeting at Cold Spring Harbor Laboratory: from October 20 to 23, 30 of the top global experts in NF will convene for three days of think tank-style meetings around NF-related cognitive deficiencies
New grants for NF research that targets NF1 protein correction through upregulation of the "good" NF gene copy. This approach has the benefit of targeting the root cause of all NF-related symptoms, potentially stopping the progression of the disease, with less near-term delivery hurdles than gene therapy.
Continued support for NF research at Children’s Tumor Foundation
Further growth and support of the Penny Doerge Adaptive Academy (PDAA) at Hospital for Special Surgery
Spreading NF awareness more broadly by supporting the continued expansion of the Penny’s Flight Chapter network at schools across the country
We remain committed, grateful and excited about the growth of Penny’s Flight Foundation and our mission to #ENDNF.