Johanna K. DiStefano

TGEN - Associate Investigator and

Head, Diabetes Research Unit

E-Mail Address: 
Phone Number: 
(602) 343-8812
(602) 343-8840
Short Bio: 

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 Information
Research Program: 
4. Cancer Prevention and Control
Member Status: 
Affiliate Member
Year of Membership Acceptance: 
Summary of Research Activity: 
R01 HL084439                                                                   04/01/2006 -03/31/2011
Genetic Determinants of Lipid Traits in Type 2 Diabetes Mellitus
The goal of this study is to identify and characterize genes that regulate lipid levels in Caucasian, Hispanic, and African American individuals with type 2 diabetes mellitus.
Role: PI
Grant                                       Nourbakhsh                                       
03/15/2008 - 03/14/2011
The Marie Curie Actions
Antagonists of Proteins-Proteins Interaction
The goal of this project is to enable researcher to acquire substantiated state of knowledge in translational genetics with partner organization which provides data and tools necessary to identify the genes that play a role in hereditable diseases and understand the genetic changes contribuiton to disease progression.
Role: Co-P.I.
07/01/2008 - 06/30/2011
American Diabetes Association
Genetics of Diabetic Nephropathy
The goal of this project is to provide substantial training for a young investigator in molecular genetics and molecule biology techniques as they are applied to diabetes research.
Role: PI
3R01HL084439-03S1                                                       07/15/2009 - 06/30/2011
Genetic determinants of lipid traits in type 2 diabetes mellitus (Administrative Supplement)
The goal of this study is to identify and characterize genes that regulate lipid levels in Caucasian, Hispanic, and African American individuals with type 2 diabetes mellitus.
Role: PI
1R01HL093042-01A2                                                         04/15/2010 - 02/28/2015
Genetic Determinants of Total Cholesterol Levels in American Indians
The overall plan for this project is to identify and characterize genetic variants that contribute to the regulation of fasting serum concentrations of total cholesterol.
Role: PI
7-09-MI-09                                                                          07/01/2010 - 06/30/2011
American Diabetes Association
The role of carnosine peptidase 1 in the development and progression of diabetic nephropathy
The main focus of this project will be on the characterization of carnosine peptidase 1, which is encoded by the CNDP1 gene.
Role: PI
Selected Publications: 

1. Millis MP, Bowen D, Kingsley C, Watanabe RM, Wolford JK. Variants in the plasmacytoma variant translocation gene (PVT1) are associated with end-stage renal disease attributed to type 1 diabetes. Diabetes. 2007; 56: 3027-32

2. Craig DW, Millis MP, DiStefano JK. Genome-wide SNP genotyping study using pooled DNA to identify candidate markers mediating susceptibility to end-stage renal disease attributed to type 1 diabetes. Diabet Med 2009; 26(11);1090-8.

3. Chakkera HA, Hanson H, Raza S, DiStefano JK, Millis MP, Heilman RP, Mulligan DC, Reddy KS, Mazur MJ, Hamawi K, Moss AA, Mekeel KL, Cerhan JR. Association of traditional and genetic risk factors and new onset diabetes mellitus following kidney transplantation. Trans Proc. 2009; 41(10):4172-7.

4. Keller C, Larkey L, DiStefano JK, Boehm-Smith E, Records K, Robillard A, Veres S, Al-Zadjali M, O’Brian AM. Perimenopausal obesity: a review. J Womens Health. 2010; 19(5):987-96.

Professional Information
Professional Affiliations: 
American Association for the Advancement of Science (AAAS)
American Diabetes Association (ADA)
American Society for Human Genetics (ASHG)
The Obesity Society
Sigma Xi