The major focus of our diabetes research seeks to identify the genes and molecular pathways that make individuals susceptible to type 2 diabetes mellitus and its complications. This research will provide the basis for improved diagnostic capabilities and will facilitate the development of more effective treatment and prevention strategies.

Major projects in this area include:

1. Concerted efforts, using a combination of 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). This research will pave the way toward more advanced diagnostic strategies and improved therapeutic options to slow the progress of or even prevent this complication of diabetes.

2. Combined genetics studies and clinical investigations, in collaboration with investigators from the Keck School of Medicine at the University of Southern California, to determine factors which underlie individual response to anti-diabetic drug therapies. This research will facilitate “personalized medicine” approaches, ensuring that each patient is given the therapeutic that will work the best in his/her treatment regime.

3. Prospective and retroactive investigations, in collaboration with clinicians from the Mayo Hospital, to pinpoint the lifestyle and molecular mechanisms that contribute to the development of diabetes as a result of kidney transplantation.

4. Utilization of innovative, state-of-the-art approaches to identify microbial and host factors associated with delayed wound healing in individuals with diabetes.

5. Efforts are also underway to delineate the interaction of lifestyle factors, such as specific dietary components and/or physical activity behaviors, on underlying genetic susceptibility.

Cardiovascular Disease Research Focus

Heart disease is the leading cause of death in the United States, where one person dies of heart-related disease every 34 seconds. Heart disease affects men and women equally, with the latest statistics indicating women account for nearly 51 percent of all heart disease patients.

The major focus of our cardiovascular disease research program involves a multi-ethnic population study to identify and describe genes that significantly effect the regulation of lipid levels, i.e., total cholesterol, LDL-cholesterol, HDL-cholesterol, and triglycerides in African Americans, American Indians, Hispanics, and Non-Hispanic Caucasians.

Major projects in this area include:

1. Epidemiological, molecular and functional studies to identify and assess lipid-related risk factors for coronary heart disease.

2. Participation in the multicenter Personalized Molecular Cardiovascular Outcome Research (PERMOCOR) study, which seeks to conduct outcomes research related to cardiovascular and metabolic diseases that will validate molecular technologies from discovery to patient care – effectively bridging the gap between R&D and clinical adoption.

3. Identification, in collaboration with clinicians at the Mayo Clinic Scottsdale, of molecular determinants of left ventricular non-impaction syndrome

4. Other research focuses on ways to assess and reduce susceptibility to chronic inflammation, a state that strongly predisposes to atherosclerosis, and assessing genetic determinants of inflammation.

Obesity Research Focus

According to the World Health Organization, obesity rates have risen three-fold or more since 1980 in some areas of North America, the United Kingdom, Eastern Europe, the Middle East, the Pacific Islands, Australasia and China.

Major projects in this area include:

1. Using the latest genomic technologies, coupled with TGen’s supercomputing capabilities, we are defining the genetic factors underlying weight gain, hyperphagia, and susceptibility to obesity.

2. In collaboration with researchers from Arizona State University, we are investigating the molecular mechanisms underlying changes in insulin sensitivity in children participating in exercise interventions.

3. Characterization of genetic determinants which contribute to weight gain in women during the transition to menopause

Education

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.