G401 - Medical Research on Neurofibromatosis (FN), with the Children's Tumor Foundation

Neurofibromatosis, also known as NF, is a genetic disorder which affects 1 in every 3,000 people of every population (meaning there are over 2.5 million people worldwide who live with NF).

At this time, there is no approved cure for NF, but a number of promising NF clinical trials are under way. As researchers continually learn more about the underlying causes of NF and what makes tumors grow, we are closer to the development of effective treatments for NF.

There are three types of NF: NF1,NF2, andschwannomatosis.

Neurofibromatosis type 1 (NF1), formerlyknown as von Recklinghausen NF or Peripheral NF, is the most common of the three types of neurofibromatosis, and is also one of the most common inherited neurological disorders, affecting about 1 in 3,000 people throughout the world. The hallmark tumors of the disorder are plexiform neurofibromas (non-cancerous tumors growing on nerves).

Neurofibromatosis type 2 (NF2)is less common than NF1, affecting about 1 in 25,000 people worldwide. The hallmark tumors of NF2 are vestibular schwannomas (formerly called acoustic neuromas), on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). These tumors affect both ears, often leading to partial or complete hearing loss. People with NF2 may also develop other types of benign brain or spinal tumors. The disorder can also cause the development of cataracts or other eye findings, potentially compromising vision. Most people develop symptoms in the late teen and early adult years, although about 10% of people develop symptoms during late childhood.

Schwannomatosisis a rare form of neurofibromatosis that has only recently been identified. The genetic disorder affects less than 1 in 40,000 people, and causes the development of benign tumors — called schwannomas — usually on spinal and peripheral nerves. These tumors develop when Schwann cells, which form the insulating cover around nerve fibers, grow abnormally. Tumor development appears to be primarily related to a change, or mutation, in certain genes that help regulate cell growth in the nervous system. These mutations prevent the genes from making the normal proteins that control cell proliferation, allowing cells to multiply excessively and form tumors. These tumors may cause excruciating pain that may be hard to manage. Schwannomatosis is usually diagnosed in adulthood.

The goal of this project is to catalyze new discoveries by financing the most promising basic and clinical research projects.

KBF CANADA is working with the Children’s Tumor Foundation on this project, a 501(c)(3) founded in 1978. Today, CTF is a highly recognized medical research foundation. The vision of the Children’s Tumor Foundation is to End NF and their mission is to drive research, expand knowledge, and advance care for the NF community.

While there is no cure yet, the Children’s Tumor Foundation mission of driving research, expanding knowledge, and advancing care for the NF community fosters the vision of one day ending NF.