Recent successes in genetic mapping have demonstrated that the technological capability now exists to identify the genes responsible for complex disorders. To be successful in such endeavors, it is necessary to combine expertise in genetic epidemiology, clinical investigation, molecular genotyping, and mathematical genetic analysis. The goal of the Human Genetics Core is to offer such expertise to DERC investigators conducting studies into the genetics of diabetes, its complications and related endocrine disorders. To achieve this objective, the Human Genetics Core will: 1) assist DERC investigators with initial study design; 2) establish and maintain EBV transformed lymphoblastoid cell lines and generate nonviable cell pellets for DNA/RNA isolation; 3) develop a panel of anonymized lymphoblastoid cell lines from subjects well characterized for diabetes and/or insulin sensitivity which can be made available to DERC investigators for such purposes as searching for mutations in specific candidate genes and evaluating differential expression of candidate genes as a function of insulin resistance; 4) provide genotyping services including genome scans, microsatellite and SNP testing of candidate genes; and 5) assist in the performance of a wide range of analytic techniques, including: segregation analysis, heritability estimation, population and family-based association, parametric and non-parametric linkage analysis, multipoint variance component linkage analysis, and linkage disequilibrium mapping. The Human Genetics Core will also provide the training to DERC investigators and their staffs to enable them to perform many of these procedures themselves with ongoing consultative support from Core staff. The DERC offers a unique opportunity to facilitate research directed at identifying the genes responsible for Type 2 diabetes and related disorders, including complications, by providing access to both the expertise and facilities necessary for such genetic research in human populations.
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