A three-year research grant of $11 million has been awarded through the Gilbert Family Foundation in America. According to a recent article in News–Medical Life Sciences, the Foundation was formed by the parents of Nick Gilbert, who has been diagnosed with neurofibromatosis type 1. His father, Dan Gilbert, confirmed their commitment to funding this ambitious project.
The Foundation and the researchers’ efforts are being enthusiastically promoted by a United Kingdom actor, Adam Pearson. Adam and his twin brother were both diagnosed with NF1. He expressed his appreciation that his friends, the Gilberts, are funding this “pioneering research.”
About Neurofibromatosis Type 1 (NF1)
NF1, a rare disease also known as Recklinghausen’s disease, can result in tumors growing on the skin and nerves. Freckles and brown spots are also common. The development of the muscles, bone, and nervous system may be affected through mutations (changes) in the NF1 gene.
Fifty percent of patients inherit NF1 from a parent who has the disease. Others develop the disease from a de novo (new) mutation and have no family history of NF1.
About NF1 Symptoms
The tumors that develop in NF1 may be cancerous (malignant) or noncancerous (benign). The benign tumors (neurofibromas) that can grow anywhere in the body mostly appear on or under the skin.
The cancerous tumors found in about ten percent of NF1 patients are called malignant peripheral nerve sheath tumors (MPNST). They grow along nerves in the body and present significant challenges to effective treatment.
Children with NF1 are mostly affected by optic gliomas that develop along the nerve located between the eye and the brain. Although there are usually no symptoms it could lead to loss of vision.
About the Cause of NF1
A normal NF1 gene suppresses tumors and stops cells from growing uncontrollably. When it is mutated it cannot function normally which leads to the growth of tumors found in the NF1 disease.
It is typical for someone born with NF1 to have one copy of the mutated gene in every cell. A second mutation will eventually occur completing the process that creates the tumors.
To date, there has been minimal progress towards the treatment of NF1. Standard procedures involve surgically removing the benign tumors, and chemotherapy may be required for cancerous tumors.
Researchers at the Foundation may focus on either replacing, repairing, or bypassing the mutated NF1 gene that affects tens of thousands of patients all over the world.