Investigator, Howard Hughes Medical Institute
Professor, Department of Pediatrics
Director, Division of Medical Genetics
Director, Interdepartmental Research Program in Human Molecular Genetics, University of Iowa
Dr. Sheffield received his bachelor of science degree in zoology from Brigham Young University and his M.D. and Ph.D. degrees from the University of Chicago. Dr. Sheffield completed a pediatric residency, a medical genetics fellowship and postdoctoral work at the University of California, San Francisco.
Dr. Sheffield is interested in identifying genes and disease mechanisms involved in single-gene and complex human genetic disorders, including hereditary blindness, deafness, autism, obesity, and cardiovascular disorders. The identification of genes, sequence variations, and mechanisms involved in complex human disorders holds great promise for improving health care, but at the same time presents a difficult challenge to the scientific community.
To better understand the genetics of complex human disorders, Dr. Sheffield’s laboratory has studied isolated human populations and Mendelian (single-gene) disorders that share a phenotypic component with common complex disorders. He has used isolated human populations to map more than 35 disorders and has used positional cloning methods to identify 15 disease-causing genes. This work has provided insight into the types of genes, mutational events and gene product interactions that are likely to contribute to common complex disorders. Recent progress in the laboratory has resulted in the identification of genes involved in a heterogeneous autosomal recessive disorder known as Bardet-Biedl syndrome (BBS). Most recently Dr. Sheffield’s lab identified defects in a single gene that underlies a hereditary form of age-related macular degeneration, the leading cause of irreversible vision loss in the developed world.