Studies of Neurofibromatosis-1 Modifier Genes
Annual rept. 1 Jun 2004-31 May 2005
MASSACHUSETTS GENERAL HOSPITAL BOSTON
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This project aims to collect NF1 patient DNAs required to identify neurofibroma burden modifier genes, to perform an allele association study for three classes of potential modifiers, and to evaluate more global approaches. Over four years we aim to collect 1200 DNAs from adult NF1 patients that represent the top and bottom 20 of dermal neurofibroma burden in various age cohorts. We will use these DNAs in a case-control allele association study that will test whether neurofibroma numerical variability reflects 1 allelic differences in genes that maintain genome stability 2 differences in the NF1 gene itself or in closely linked genes or 3 differences in genes involved in signaling between neurofibroma constituent cells. In the second year of this project we have continued to make progress towards our patient recruitment goal, in part by enlisting additional clinical collaborators. Among other major progress, we have implemented a relational database of approximately 25 of human genes, and we have used this database to identify and prioritize approximately 1000 candidate neurofibroma burden modifiers. We have also begun the genotyping of selected high priority SNPs and have published three review papers describing our bioinformatics efforts.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research