Val Sheffield, M.D., Ph.D. (Full Member)
Professor, Department of Pediatrics, University of Iowa
Investigator, Howard Hughes Medical Institute

http://www.uihealthcare.com/depts/med/pediatrics/pedsmds/sheffield.html

Research Interest    

Dr. Sheffield's laboratory is interested in identifying and understanding the functions of genes that cause a variety of human disorders. His research efforts have focused on the molecular genetics of monogenic disorders that have phenotypic overlap with common complex diseases. This approach provided insights into the types of genes, mutational events, and gene product interactions that are likely to contribute to common complex disorders. His laboratory has used positional cloning methods to identify genes involved in a number of different diseases, including hereditary blindness and deafness. Work in progress includes positional cloning to identify additional disease-causing genes. Complex genetic disorders currently under investigation in the laboratory include hypertension, obesity and autism. Recent work in his laboratory has also focused on the study of Bardet-Biedl syndrome. Dr. Sheffield has also had an active role in the human and the rat genome projects, and his laboratory has used gene transfer technologies and knockout mouse models to understand how mutations in the genes identified by the group lead to disorders in the affected tissues.

Selected Publications

Davis, R.E., Swiderski, R.E., Rahmouni, K., Nishimura, D.Y., Mullins, R.F., Agassandian, K., Philp, A.R., Searby, C.C., Andrews, M.P., Thompson, S., Berry, C.J., Thedens, D.R., Yang, B., Weiss, R.M., Cassell, M.D., Stone, E.M., and Sheffield, V.C. 2007. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A 104:19422-19427.

Nachury, M.V., Loktev, A.V., Zhang, Q., Westlake, C.J., Peranen, J., Merdes, A., Slusarski, D.C., Scheller, R.H., Bazan, J.F., Sheffield, V.C., and Jackson, P.K. 2007. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201-1213.

Rahmouni, K., Fath, M.A., Seo, S., Thedens, D.R., Berry, C.J., Weiss, R., Nishimura, D.Y., and Sheffield, V.C. 2008. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest. (In press)

Davis, L.K., Meyer, K.J., Rudd, D.S., Librant, A.L., Epping, E.A., Sheffield, V.C., and Wassink, T.H. 2008. Pax6 3' deletion results in aniridia, autism and mental retardation. Hum Genet. (In press)

Publications from PubMed