Patsy Nishina, PhD

Professor of Medicine

 

Education

BS, BEd, Education & Nutrition, University of Hawaii, Manoa
MS, Biochemical Nutrition, University of California, Davis
PhD, Biochemical Nutrition, University of California, Davis
Postdoctoral Training, Children's Hospital, Oakland

 

Location

Campus: The Jackson Laboratory, Bar Harbor, ME
Office: NRB 3135
Laboratory: NRB 3150

Contact Information

Office Phone: 207-288-6383
Laboratory Phone: 207-288-6620
E-mail   Send an e-mail

 

Graduate Programs

Genetics

 

Research Synopsis

Obesity, non-insulin dependent diabetes mellitus (NIDDM) and heart disease are highly prevalent metabolic diseases that afflict a large proportion of the aging population in the United States. These diseases should be viewed as aspects of a metabolic syndrome that is produced by the interaction of many genes, rather than as separate entities. To illustrate the complexity of the issue, there are approximately 500 to 1,000 genes in mice that may lead to obesity when mutated. Our program focuses on identification of new obesity and type 2 diabetes mutations and their genetic modifiers. We are investigating aspects of sensory loss in addition to the biochemical obesity and type 2 diabetes pathways in Alström and similar genetic syndromes. Our laboratory identified a human gene, ALMS1, that is mutated in patients with Alström syndrome, a rare inherited condition characterized by multiple disorders, including childhood obesity, retinal and cochlear (inner ear) degeneration, type 2 diabetes and hyperlipidemia (elevation of fats in the bloodstream, including cholesterol and triglycerides).

Mouse models of vision research have been instrumental in identifying primary mutations within genes that lead to ocular disorders and in identifying pathways important in retinal function through modifier screens, protein, and expression profiling. Our program is dedicated to identifying genes which when mutated lead to ocular diseases, to identify mechanisms underlying the function of those genes as well as the resulting pathological changes. The models are derived both from spontaneous mutations as well as chemical mutagenesis screens. Our lab focuses primarily on genes affecting the neural retina and supporting structures such as the retinal pigmented epithelium, glial cells and vascular network.

Apply to the Sackler School

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The priority application deadlines are as follows:

December 1: Basic Science Division PhD Programs

February 15: Building Diversity in Biomedical Sciences

March 31: Post-Baccalaureate Research Program

May 1: Clinical & Translational Science, MS in Pharmacology & Drug Development

June 15: Online Certificate in Fundamentals of Clinical Care Research