Katalin Susztak, M.D., Ph.D.
Professor of Medicine (Renal Electrolyte and Hypertension Division) and Genetics University of Pennsylvania
Dr. Katalin Susztak is a physician-scientist at the University of Pennsylvania.
Dr. Susztak has made discoveries fundamental towards defining critical genes, cell types and mechanisms of chronic kidney disease. She was instrumental in defining genetic, epigenetic transcriptional changes in diseased human kidneys. She identified multiple novel kidney disease genes and demonstrated role of Notch signaling and metabolic dysregulation in kidney disease development.
Her lab was the first to map the kidney epigenome and catalogue genotype-driven gene-expression variation (eQTL) in human kidneys. Integration of GWAS, eQTL and epigenome data has been essential to prioritize disease-causing genes and variants.
Dr. Susztak generated the first unbiased, comprehensive kidney cell-type atlas using single cell transcriptomics. She identified that specific renal endophenotypes are linked and likely caused by the dysfunction of specific cell types.
In follow-up animal model studies, she conclusively demonstrated that MANBA, DAB2, DACH1 and APOL1 are new kidney disease risk genes. Her work established the role of proximal tubule cells, endolysosomal trafficking, metabolic and developmental pathways in kidney disease development.
Dr. Susztak has been the recipient of the 2011 Young Investigator Award of the American Society of Nephrology and American Heart Association, one of the most prestigious awards given to researchers under the age of 41 in the field of nephrology. In 2021 Dr Susztak was recipient of the Alfred Newton Richards Award from the International Society of Nephrology that recognizes outstanding basic research in fields relevant to nephrology. Her laboratory is supported by the National Institute of Health, the American Diabetes Association, the Juvenile Diabetes Research Foundation, and private sources.
Susztak's discoveries span genetics, genomics, epigenetics, molecular biology, physiology and nephrology, and have enormous translational relevance and considerable therapeutic potential.