Johanna DiStefano
Johanna DiStefano

Johanna DiStefano Ph.D.

Metabolic and Fibrotic Disease Program

Diabetes and Fibrotic Disease Unit 

Johanna DiStefano Ph.D.

Dr. Johanna DiStefano is a Professor and Head of the Diabetes and Fibrotic Disease Program where she leads research in Epigenetics and Fibrosis. In addition, she holds Affiliate Faculty positions in the College of Nursing at Arizona State University and the Department of Biochemistry and Molecular Genetics at the University of Colorado School of Medicine.

For more than twenty years, Dr. DiStefano has investigated molecular mechanisms underlying type 2 diabetes and related complications. During this time, she has led several successful NIH-funded studies to identify genetic and molecular factors associated with the development and progression of diabetic kidney disease, nonalcoholic fatty liver disease (NAFLD), and diabetic dyslipidemia, all of which contribute significantly to morbidity and mortality in patients with diabetes. Her team works with ethnically diverse patient populations using state-of-the-art laboratory approaches, including high throughput sequencing of DNA, RNA, and noncoding RNA, in vitro model systems, functional genomics, and global DNA methylation analysis, to address important gaps in our understanding of disease pathogenesis and directly impact unmet clinical needs. The longstanding goal of her scientific program has been to conduct research leading to 1) an enhanced mechanistic understanding of complex disease processes, 2) early and noninvasive diagnostic assays to identify at-risk individuals for preventative strategies, 3) individualized treatment strategies in the clinical management of disease, and 4) identification of targets for the development of new and improved therapeutics.

Dr. DiStefano has published over 100 scientific articles and book chapters related to the molecular analysis of complex metabolic diseases. She has been a standing member of the Kidney, Nutrition, Obesity, and Diabetes (KNOD) study section of the National Institutes of Health and regularly participates in ad hoc grant review committees. Dr. DiStefano has mentored over 50 undergraduate and graduate students, post-doctoral fellows, and junior faculty, and has served on a number of steering committees and multi-centered consortia. She has been a member of the Family Investigation in Nephropathy and Diabetes (FIND) study, adjunct faculty in the School of Life Sciences at Arizona State University, a consultant to the Charles R. Drew University of Medicine and Science-NIH/NIDDK High School Summer Research Program, and a Visiting Professor in the Department of Internal Medicine at Catholic University in Rome, Italy. She earned a B.S. in Chemistry and Psychology from The Ohio State University and a Ph.D. in Molecular Biology and Biochemistry from Kent State University. She completed a post-doctoral fellowship in genetic studies of diabetes in Native Americans at the NIDDK, where she served as a Staff Fellow prior to joining the faculty at TGen in 2003.


The emerging role of angiopoietin like 8 (ANGPTL8) in the regulation of triglyceride and lipoprotein metabolism in atherogenic dyslipidemia. Leti F and DiStefano JK. Int Med Rev 2017. 3(11); 106-117.

Altered expression of MALAT1 lncRNA in nonalcoholic steatohepatitis fibrosis regulates CXCL5 in hepatic stellate cells. Leti F, Legendre C, Still CD, Chu X, Petrick A, Gerhard GS, DiStefano JK. Transl Res 2017. 190; 25-39.

Long noncoding RNAs as diagnostic and therapeutic targets in type 2 diabetes and related complications. Leti F and DiStefano JK. Genes 2017.m8; 207-226.

Long noncoding RNAs in the pathogenesis of diabetic kidney disease: implications for novel therapeutic strategies. Leti F, Morrison E, DiStefano JK. Pers Med 2017. 14(3)

A multi-component classifier for nonalcoholic fatty liver disease (NAFLD) based on genomic, proteomic, and phenomic data domains. Wood GC, Mikrad MP, Field SG, Williams SA, Chu X, Argyropoulos G, Benotti P, Rolston D, Mirshahi T, Petrick A, Gabrielson J, Carey DJ, DiStefano JK, Still CD, and Gerhard GS. Sci Reports 2017. 7; 43238.

Role of miRNA-1207-5p and its host gene, the long noncoding RNA PVT1 as mediators of extracellular matrix accumulation in the kidneu: implications for diabetic nephropathy. Alvarez ML, Khosroheidari M, Eddy E, Keifer J, and DiStefano JK. PLoS One 2016. 11(12); e0168353.

The Arg59Trp mutation in ANGPTL8 (Betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3. Hanson RL, Leti F, Taila M, Zhang M, Khosroheidari M, Kobes S, Knowler WC, Puppala S, Curran JE, Carless M, Lehman DM, Blangero J, Duggirala R, and DiStefano JK. Mol Genet Metab 2016. 118 (2); 128-37.

Genome-wide analysis of hepatic lipid content in extreme obesity. DiStefano JK, Kingsley C, Wood GC, Chu X, Argyropoulos G, Still CD, Jin Q, Doné SD, Legendre C, Tembe W, and Gerhard GS. Acta Diabetol 2015. 52(2); 373-82.

Circulating miRNAs in nonalcoholic fatty liver disease. DiStefano JK and Gerhard GS. Exp Rev Gastroenterol Hepatol 2015. 10(2); 161-3.

Towards microRNA-based therapeutics for diabetic nephropathy. Alvarez ML and DiStefano JK. Diabetologia 2013. 56(3); 444-56.

The role of non-coding RNAs in diabetic nephropathy: Potential applications as biomarkers for disease development and progression. Alvarez ML and DiStefano JK. Diabetes Res Clin Pract 2013. 99(1); 1-11.

Functional characterization of PVT1 in diabetic nephropathy. Alvarez ML and DiStefano JK. PLoS One 2011. 6(4); e18671.

Association of variants in the carnosine peptidase 1 gene (CNDP1) with diabetic nephropathy in American Indians. Chakkera HA, Hanson RL, Kobes S, Nelson, RG, Knowler, DiStefano JK. Mol Genet Metab 2011. 103(2); 185-90.

Identification of novel genetic markers and improved treatment options for diabetic kidney disease. DiStefano JK. Biomarkers in Medicine 2010; 4(5): 739-741.

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

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

Meta-analysis of genome-wide linkage studies of quantitative lipid traits in families ascertained for type 2 diabetes mellitus. Malhotra A, Elbein SC, Ng MCY, Duggirala R, Arya R, Imperatore G, Adeyemo A, Pollin TI, Hsueh W-C, Chan JCN, Rotimi C, Hanson RL, Hasstedt SJ, The American Diabetes Association GENNID Study Group, Wolford JK. Diabetes 2007; 56: 890-896.

Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based, genome-wide SNP association study. Hanson RL, Craig DW, Millis MP, Yeatts KA, Kobes S, Pearson JV, Lee AM, Knowler WC, Nelson RG, and Wolford JK. Diabetes 2007; 56: 975-983.
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