Dr. Sheffield is a well-established physician-scientist and former Howard Hughes Medical Institute investigator (1997-2017) focused on understanding the pathophysiology and improving management of human genetic diseases including both Mendelian disorders and genetically complex diseases. His laboratory has contributed to a better understanding of hereditary blindness, obesity, diabetes and hypertension. This work includes (i) identifying the genes involved in specific hereditary diseases; (ii) determining the molecular functions of the genes/proteins associated with these disorders; (iii) determining genetic and protein interactions, as well as the protein complexes and networks involved; (iv) developing animal models of inherited diseases to aid in determining the disease- specific pathophysiology; and (v) utilizing animal models to develop interventions and treatments. His laboratory has made substantial contributions in all these areas and has extensive expertise in genetics, cell biology, pathophysiology, and animal models. Recently, his laboratory has developed a novel non-invasive treatment for oxidative stress-related disorders.

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