Josephine Hoh, Ph.D.
Department of Epidemiology and Public Health
Division of Chronic Disease Epidemiolgoy
Yale School of Medicine
Researchers have concluded that for a person to develop a chronic disorder, he/she (i) must be inherently susceptible and (ii) must have been affected with the triggering agents, many for an extended period of time. Stochastic events (iii) are also responsible, though percent contributions to the disease from each category, (i), (ii), and (iii), vary among diseases. My research goals are to understand the principle of interactions among genes, environmental exposures as well as stochastic random effects in relationship to the disease expression and pathogenesis. In collaboration with epidemiologists, statisticians, computer scientists, molecular biologists and physicians, our strategy is to develop an organized and systematic approach to tackle the problem through the analysis of several chronic diseases. At the moment we are investigating age-related macular degeneration (AMD). My laboratory has completed several epidemiological studies in well-defined populations of individuals with and without AMD. Using a dense whole-genome SNP panel of markers, we were able to identify a SNP in the complement factor H (CFH) gene and one in the promoter of the serine protease gene, HTRA1, which are significantly associated with AMD. We are now following up these findings with additional computational analyses and studies in populations with different ethnic backgrounds. We are also undertaking the same gene mapping paradigm to study the genetic etiology of other human illnesses.