The NINDS supports clinical research aimed at understanding the natural history of tumors in NF2 and determining possible factors that may regulate their growth patterns. Using diagnostic imaging, eye examinations, hearing and balance tests, neurologic examinations, blood and genetic testing, and quality of life assessements, researchers hope to better characterize the impact of NF2 on individuals and look for possible factors that may affect disease progression.
The NINDS is supporting ongoing research with a large group of children with NF1 to find associations between brain abnormalities and specific cognitive disabilities. Finding these links would give doctors an indication of the kinds of learning disabilities parents and their children could anticipate and help them develop early intervention programs.
Current basic and clinical research is aimed at understanding how the genetic mutations that cause the benign tumors of NF1 also cause neurons and neural networks to form abnormally during fetal development, which later result in the learning disabilities and cognitive deficits of children with the disorder. The NINDS also encourages research to develop improved methods to diagnose the neurofibromatoses and identify factors that contribute to the wide variations of symptoms and severity of the disorders.
Ongoing NINDS-sponsored research continues to discover additional genes that appear to play a role in NF-related tumor suppression or growth. Continuing research on these genes and their proteins is beginning to reveal how this novel family of growth regulators controls tumors formation and growth. Understanding the molecular pathways and mechanisms that govern these key proteins and their activities will offer scientists exciting opportunities to design drugs that could replace the missing proteins in people who have the neurofibromatoses, and return their cell production to normal.
In the mid-1990s, research supported by the NINDS located the exact position of the NF1 gene on chromosome 17. The gene has been cloned and its structure continues to be analyzed. The NF1 gene makes a large and complex protein called neurofibromin, which is primarily active in nervous system cells as a regulator of cell division and functions as a kind of molecular brake to keep cells from over-multiplying. In addition to work on NF1, intensive efforts have led to the identification of the NF2 gene on chromosome 22. As in NF1, the NF2 gene product is a tumor-suppressor protein (called merlin or schwannomin).