Johanna DiStefano

Professor and Director
Diabetes, Cardiovascular & Metabolic Diseases Division
Translational Genomics Research Institute
United States of America

Biography

Dr. DiStefano received her Ph.D. in molecular biology from Kent State University and obtained her post-doctoral training in human genetics at the National Institute of Diabetes and Digestive and Kidney Disorder branch of the National Institutes of Health. At NIDDK, Dr. DiStefano's work identified genetic variants that contribute to diabetes susceptibility in American Indians. Dr. DiStefano concurrently holds appointments as an Adjunct faculty member in the School of Life Sciences at Arizona State University, is an investigator with the Southwestern American Indian Center, a member of the Steering and Molecular Genetics Subcommittees of the Gfamily Investigation in Nephropathy and Diabetes (FIND) study, and a member of the Scientific Review Panel of the American Diabetes Association and the Clinical and Integrative Diabetes and Obesity (CIDO) study section of the National Institutes of Health.

Research Intrest

 identification of the genes and molecular pathways that make individuals susceptible to type 2 diabetes mellitus and its complications, genome-wide approaches, high throughput sequencing, in vitro model systems, and expression studies, to identify genes involved in the development and progression of renal failure attributed to diabetes (both type 1 and type 2), anti-diabetic drug therapies, Prospective and retroactive investigations, Cardiovascular Disease.

List of Publications
Investigation of PAXIP1L as a candidate gene for diabetic nephropathy. Ethn Dis 15 (3 suppl 4): S4-64-65. 2005
American Diabetes Association GENNID Study Group, Analysis of quantitative lipid traits in the genetics of NIDDM (GENNID) study Diabetes 54(10):3007-14 2005
Variants in the plasmacytoma variant translocation gene (PVT1) are associated with end-stage renal disease attributed to type 1 diabetes. Diabetes 56 (12): 3027-32 2007
Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study. Diabetes 56 (4):975-83 2007
Meta-analysis of genome-wide linkage studies of quantitative lipid traits in families ascertained for type 2 diabetes. Diabetes 56(3):890-6 2007