Research Core: Joslin Molecular Phenotyping and Genotyping Core
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- Mary-Elizabeth Patti MD
The laboratory of Mary-Elizabeth Patti, MD focuses on mechanisms by which environmental or nutritional risk factors (e.g. obesity, prenatal and early postnatal nutrition) influence gene expression and metabolic function in tissues critical for insulin sensitivity and glucose tolerance. Her laboratory has demonstrated that a consistent pattern associated with type 2 diabetes is impaired expression of nuclear-encoded genes controlling enzymes critical for mitochondrial oxidative metabolism. In turn, this pattern is linked to intracellular accumulation of potentially pathogenic lipid species.
Current studies are focused on analyzing patterns of gene expression and cellular metabolites in muscle, adipose, and liver of normoglycemic individuals with “prediabetes,” or diabetes risk, in order to identify early mechanistic changes which may be targets for prevention and therapy. To elucidate mechanisms mediating relationships between early life nutritional exposures, epigenetic changes, and diabetes risk, Dr. Patti has developed mouse models of developmental risk for diabetes and obesity, mediated by an adverse nutritional environment during prenatal and early postnatal life. Alterations in transcriptional, epigenetic, and metabolic regulation in these models may provide a mechanistic clue to diabetes risk and perpetuation of such risk to subsequent generations.
Dr. Patti received her undergraduate and medical degrees through an accelerated medical school program at Jefferson Medical College, followed by internal medicine residency at the University of Pittsburgh, and training in the joint Harvard Medical School endocrinology fellowship program. She is currently Investigator, Director of the Joslin Genomics Core, and Director of the Hypoglycemia and Severe Insulin Resistance Clinic (all at Joslin Diabetes Center), and Assistant Professor of Medicine, Harvard Medical School. She was elected to the American Society of Clinical Investigation in 2009.