The overall goal is to use purebred dogs as a novel tool to discover and clone key human disease genes. Pharmaceutical partners will use the new molecular insights to design specific therapies for these diseases. Genetic isolates are key in mapping and cloning disease genes, particularly genetically heterogenous diseases. Most human isolates have been exploited, but the 150 purebred dog breeds represent overlooked genetic isolates, and can serve as surrogates for human isolates. Dogs share with humans the same genetic diseases, and because of companion animal status, diseases including those with late age of onset have been studied by veterinarians. Using the dog in this manner is a technological innovation. In this SBIR, a human epilepsy gene will be cloned by first cloning the causative canine gene, using purebred dogs with hereditary epilepsy. The gene causing epilepsy in the dog is an excellent candidate for causing one of the types of human epilepsy. In Phase I, the first step will be taken by developing a linked gene marker to the one or more epilepsy genes. Steps in Phase II will lead to cloning the human genes, and ultimately to specific drug therapy
