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Searching for genetic markers for inflammation and fibrosis in kidney disease

Inflammation and subsequent fibrosis play a critical role in the progression of kidney disease. Research to understand the cell types, genes, and mechanisms behind this process could reveal new ways to treat or even prevent kidney disease.

Katalin Susztak is a professor of medicine and genetics at the University of Pennsylvania, USA. She is a physician-scientist investigating the genetic and molecular mechanism of kidney disease development, with the ultimate goal of finding new, more effective therapies.

She explains: “Our research helps to understand why people progress to end-stage renal failure, and how we can develop new drugs that protect people from a decline in kidney function.”

Over the past 20 years, Professor Susztak’s team has banked and analyzed many healthy and diseased human kidney tissue samples. She explains: “We believe that an integrative analysis of epigenetic and genetic settings in diseased cells can provide a rational basis for more accurately modeling the critical biological pathways involved in the development of kidney disease.”

Professor Susztak hopes that by modeling these pathways, we can better understand how they influence the deterioration of kidneys in patients and identify potential to investigate for treatment and prevention.

Professor Susztak’s research has helped define the critical genes, cell types, and mechanisms of chronic kidney disease (CKD) and the genetic, epigenetic, and transcriptional changes in diseased human kidneys. Her work has identified multiple novel kidney disease genes and demonstrated the role of Notch signaling and metabolic dysregulation in kidney disease development.

In her talk at WCN’22, Professor Susztak will discuss her research to identify a defect in mitochondrial integrity and function that can lead to the development of kidney disease in animal models and patients and could offer a new therapeutic pathway for patients with CKD.

Professor Susztak believes her recent work on metabolism in the cells of the proximal tubule and its role in the development of kidney disease has much potential: “Targeting this cell type and pathway will be important for the development of future therapeutics,” she adds.

Katalin Susztak: “Mitochondrial Metabolism and Inflammation”, Theme Symposium “Inflammation, Fibrosis, and Oxidative Stress. Joint Session with JSN”, Saturday 26 February, 21:30–22:30 hrs Kuala Lumpur (Malaysia) time: https://cm.theisn.org/cmPortal/searchable/WCN2022/config/normal#!sessiondetails/0000015420_0

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