[Congressional Record (Bound Edition), Volume 154 (2008), Part 9]
[Senate]
[Page 12152]
[From the U.S. Government Publishing Office, www.gpo.gov]




                      NEUROFIBROMATOSIS AWARENESS

  Mr. COBURN. Madam President, I rise today to highlight the 
difficulties caused by neurofibromatosis, NF, the work currently being 
done by the Federal Government to address this difficult disease, and 
the importance of awareness about NF.
  NF is a genetic disorder of the nervous system, which causes tumors 
to form on the nerves anywhere in the body at any time. NF is a 
progressive disorder and is one of the most common genetic disorders in 
the United States. An estimated 100,000 Americans have a 
neurofibromatosis disorder. About half of those affected with NF have a 
prior family history of the disease.
  NF has two distinct forms, NF1 and NF2. NF1 is the more common 
version, occurring in 1 of nearly every 4,000 individuals in the U.S. 
It has varying manifestations and degrees of severity resulting from a 
mutation of the NFI gene. Symptoms include common skin abnormalities 
and are often evident at birth or shortly afterwards. NF1 can cause 
learning disorders, bone deformities, and may even be associated with 
cancer. NF2 is a much more rare condition, resulting from a mutation of 
the NF2 gene, that is most frequently associated with hearing loss and 
visual impairment.
  The National Institutes of Health, NIH, supports critical research to 
fight NF, investing approximately $13 million a year. At NIH, the $1.5 
billion National Institute of Neurological Disorders and Stroke, NINDS, 
supports research and clinical trials to understand normal and abnormal 
development of the brain and nervous system to improve our 
understanding of the disease and our ability to prevent, treat, and 
ultimately cure the NF disorders. Researchers have been able to locate 
the exact NF1 gene, which they found normally works as a ``molecular 
brake'' to keep cells from overmultiplying, and the NF2 gene, which 
they found normally helps suppress tumors. It is the mutations of these 
genes that cause the difficulties associated with NF. According to 
NINDS:

       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 
     neurofibromatosis and return their cell production to normal.

  NINDS is currently researching how NF1 can also cause abnormal fetal 
development that can cause learning disabilities and cognitive deficits 
for children. NINDS also supports research aimed at developing improved 
methods of diagnosing NF and identifying factors that cause the wide 
variations of symptoms and severity of the disorders.
  As a practicing physician, I am encouraged that NINDS is performing 
research to help doctors equip parents for their child's education by 
pinpointing associations between brain abnormalities and specific 
cognitive disabilities. This will help parents to develop and implement 
early intervention programs.
  Having treated patients with NF, I know firsthand the pain and 
suffering associated with the disease and the difficulties it can cause 
for parents. The ongoing Federal research activities though NIH are 
critical toward fighting NF. I also applaud the tremendous efforts of 
private foundations and the thousands of NF volunteers and advocates 
across the country. It is my sincere hope that public-private 
partnerships will continue to provide medical breakthroughs that can 
prevent, treat, and cure NF and other painful diseases.

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