Katalin Susztak University of PennsylvaniaUnited States

Katalin Susztak, MD, PhD is a Professor of Medicine and Genetics at the University of Pennsylvania, she is a physician scientist who aims to understand the genetics and molecular mechanism of kidney disease development, with the ultimate goal of finding new, more effective therapies. She has made discoveries fundamental towards defining critical genes, cell types and mechanisms of chronic kidney disease. She was instrumental in defining genetic, epigenetic and 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 genome-wide association studies(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's discoveries span genetics, genomics, epigenetics, molecular biology, physiology and nephrology, and have enormous translational relevance and considerable therapeutic potential. Dr Susztak is member of the American Society of Clinical Investigations, American College of Physicians. She had received multiple awards, including the Young Investigator award from the American Society of Nephrology, the Alfred Richards lifetime award from the International Society of Nephrology and the William Osler research award of the University