Val C. Sheffield, M.D., Ph.D.
My laboratory is interested in identifying and understanding the function of genes which cause a variety of human disorders. Our research efforts have focused on the molecular genetics of monogenic disorders, as well as polygenic and multifactorial disorders. Our research efforts have resulted in the mapping of many different disease loci. In addition, we have used positional cloning methods to identify genes involved in a number of different diseases including hereditary blindness and deafness. Efforts are currently underway to use positional cloning strategies to identify additional disease-causing genes. Complex genetic disorders currently under investigation in the laboratory include hypertension, obesity, congenital heart disease and autism. In addition, we have worked on developing and improving techniques for disease mapping, positional cloning, and mutation detection. We have also had an active role in the human genome project and the rat genome project.
- Human Genetics