Accession Number : ADA437252


Title :   Studies of Neurofibromatosis-1 Modifier Genes


Descriptive Note : Annual rept. 1 Jun 2004-31 May 2005


Corporate Author : MASSACHUSETTS GENERAL HOSPITAL BOSTON


Personal Author(s) : Bernards, Andre


Full Text : https://apps.dtic.mil/dtic/tr/fulltext/u2/a437252.pdf


Report Date : Jun 2005


Pagination or Media Count : 33


Abstract : 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.


Descriptors :   *DEOXYRIBONUCLEIC ACIDS , *GENES , DATA BASES , SIGNAL PROCESSING , PATIENTS , NUCLEOTIDES , CLINICAL TRIALS , GENOME , GENETIC ENGINEERING , STABILITY , NUMERICAL ANALYSIS , CLINICAL MEDICINE


Subject Categories : Genetic Engineering and Molecular Biology
      Medicine and Medical Research


Distribution Statement : APPROVED FOR PUBLIC RELEASE