Researcher to Address Tubular Cell Reprogramming

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Katalin Susztak, MD, PhD

Citation: Kidney News 12, 10/11

A leading researcher in genetics and genomics will deliver the Barry M. Brenner, MD, Endowed Lectureship on “Tubular Cell Metabolic Reprogramming in Renal Fibrogenesis” on Thursday, Oct. 22.

The speaker will be Katalin Susztak, MD, PhD, a professor of medicine in the division of renal electrolyte and hypertension and professor of genetics at the University of Pennsylvania.

“I think this is a really exciting time in science,” Dr. Susztak said. “New technologies are emerging, which will really accelerate research progress, and I think we have fantastic new discoveries ahead of us in biology.”

Dr. Susztak leads a team interested in understanding the pathophysiology of CKD development. She has made discoveries fundamental to defining critical genes, cell types, and mechanisms of CKD. She was instrumental in defining genetic and epigenetic transcriptional changes in diseased human kidneys. She identified novel kidney disease genes and demonstrated the contribution 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 in human kidneys. Integration of genome-wide association study, expression quantitative trait loci, and epigenome data has been essential to ranking disease-causing genes and variants.

Dr. Susztak generated the first unbiased, comprehensive kidney cell-type atlas using single-cell transcriptomics. She demonstrated 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 pathways, and developmental pathways in kidney disease development.

Dr. Susztak’s discoveries span genetics, genomics, epigenetics, molecular biology, physiology, and nephrology, and have enormous translational relevance and considerable therapeutic potential.

She serves on the editorial boards of JASN, Disease Models and Mechanisms, Diabetes, PLOS ONE, Kidney International, American Journal of Physiology/Renal and Electrolyte Section, and Scientific Reports.

Dr. Susztak received the Young Investigator Award of the American Society of Nephrology and American Heart Association. Her laboratory is supported by the National Institutes of Health, the American Diabetes Association, the Juvenile Diabetes Research Foundation, and private sources.

She received her medical and doctoral degrees from Semmelweis University Medical School in Budapest, Hungary. She completed her internship and residency in internal medicine as well as her nephrology fellowship at the Albert Einstein College of Medicine.