I am currently trying to identify two genes involved in two diseases, eventually choosing one as my thesis project. Inflammatory Bowel Disease, which consists of Ulcerative Colitis and Crohn's Disease, is common among the worlds population. Symptoms range from mild intestinal discomfort to severe inflammation resulting in fissuring or ulcerating of the large intestine. Currently there are no less than half a dozen loci implicated in IBD, with one gene identified to date on Chromosome 16. Elucidation of genes involved in IBD has been difficult due to its multi-genetic nature compounded with multiple phenotypes based on subsets and severity. This project has been going on for more than two years now in conjunction with Dr. Jerry Rotter at UCLA/Cedars-Sinai Medical Center. Dr. Rotter has the largest collection of IBD samples localized to Chromosome 14 (IBD4). Using linkage analysis and sib-pair testing, we have localized the region to approximately 500KB. With only a handful of genes within this region, a candidate gene search is underway. I have been applying similar methods to identify the gene involved in Birt-Hogg-Dube. (BHD) is a rare form of autosomal dominantly inherited bilateral clear cell renal carcinoma associated with facial fibrofolliculomas and pneumothorax. Using linkage analysis in a single large family, along with data from a lab at FHCRC working on the dog model of this disorder, have narrowed the region to approximately 2Mb. Currently we are trying to refine this region by obtaining more family members while concurrently screening possible candidate genes. Once a gene has been identified from either disease, numerous experiments can be performed in vivo and in vitro to reveal the biological mechanism.