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Mia MacCollin, M.D., Principal
Investigator
Neurofibromatosis 2 (NF2) is a genetic
disorder characterized by the development of bilateral vestibular
schwannoma and other nervous system tumors. Both NF2 and neurofibromatosis
1 (NF1) show great clinical variability between individuals with
regards to tumor burden, severity of disease and age of onset and
death. Despite these overall differences and unlike NF1, NF2 shows
remarkable homogeneity within families, suggesting an effect of
the underlying mutation on the resultant clinical problems. This
project is investigating the role of the underlying genetic changes
or mutations in determining the clinical problems that NF2 patients
and their affected family members face. Currently, three broad areas
of investigation are active:
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The vast majority of NF2 affected
individuals harbor small genetic "mis-spellings" of
the NF2 gene. What effect does the type and location of these
small changes, or mutations have upon the resulting clinical
problems?
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Up to one third of the mutations
in individuals with NF2 cannot be detected with current methods,
and individuals with these "unfound" changes predominantly
have mild NF2. What is the genetic mechanism for mild NF2 and
what implications does it have for the function of the NF2 protein
in tumor prevention?
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What is the role of the NF2 gene
in atypical NF2, such as young children with unilateral vestibular
tumors or people with NF2 on only one side of the body?
Mia
MacColin, M.D.
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