Katalin Susztak, M.D., Ph.D.
Katalin Susztak, MD, PhD
Professor of Medicine (Renal-Electrolyte and Hypertension Division) and GeneticsDirector, Penn/CHOP Kidney Innovation CenterUniversity of Pennsylvania
Dr. Katalin Susztak is a physician-scientist at the University of Pennsylvania whose work has fundamentally advanced the understanding of the genetic, cellular, and molecular mechanisms of chronic kidney disease.
Her research has identified critical kidney disease risk genes, disease-driving cell types, and pathogenic pathways through the integration of human genetics, epigenomics, transcriptomics, artificial intelligence–enabled analytics, and experimental models. Dr. Susztak was instrumental in defining genetic, epigenetic, and transcriptional changes in diseased human kidneys and in establishing how these molecular alterations drive kidney disease progression.
Her laboratory was the first to map the human kidney epigenome and to systematically catalog genotype-driven gene expression variation (eQTLs) in human kidney tissue. By integrating genome-wide association studies with epigenomic, transcriptomic, and AI-based analytical frameworks, her work has enabled the prioritization of causal genes and regulatory variants underlying kidney disease.
Dr. Susztak also generated the first unbiased, comprehensive human kidney cell-type atlas using single-cell transcriptomics and spatial genomics. These studies demonstrated that specific renal disease phenotypes are linked to dysfunction in defined cell populations, providing a foundation for precision diagnostics and targeted therapeutic strategies.
Using complementary animal models, her laboratory established MANBA, DAB2, DACH1, and APOL1 as kidney disease risk genes and defined the pathogenic roles of proximal tubule cells, endolysosomal trafficking, metabolic dysregulation, and developmental pathways in kidney disease.
As Director of the Penn/CHOP Kidney Innovation Center, Dr. Susztak leads multidisciplinary efforts that integrate clinical cohorts, advanced omics technologies, and artificial intelligence to accelerate discovery, enable translational research, and develop next-generation diagnostics and therapeutics for kidney disease.
Dr. Susztak’s contributions have been recognized with numerous honors, including the Homer W. Smith Award of the American Society of Nephrology, the Alfred Newton Richards Award from the International Society of Nephrology, and the Young Investigator Award from the American Society of Nephrology and the American Heart Association. She is an elected member of the National Academy of Medicine, recognizing her sustained and influential contributions to biomedical science and human health.
Her research program is supported by the National Institutes of Health, the American Diabetes Association, the Juvenile Diabetes Research Foundation, and private foundations.
Dr. Susztak’s work spans genetics, genomics, epigenetics, molecular biology, physiology, nephrology, and artificial intelligence, with strong translational relevance and significant therapeutic potential.