Katalin Susztak, MD, PhD (Medicine)
Professor of Medicine (Renal-Electrolyte and Hypertension)
Professor of Medicine (Renal-Electrolyte and Hypertension)
Hospital Appointment, Philadelphia VA Medical Center
Member, Institute of Diabetes and Obesity and Metabolism
Member, Institute of Translational Medicine and Therapeutics
Member of MD PhD admission Committee, PSOM
Codirectorof complications unit , Institute of Diabetes Obesity and Metabolism
Member, Department of Medicine PSOM promotion Committee
Co-Chair, Penn/CHOP Kidney Innovation Center
Department: Medicine
Graduate Group Affiliations
Contact
12-123 Smilow Center for Translational Research
3400 Civic Center Blvd
Philadelphia, PA 19104
Office: 215 898 2009
Lab: 215 898 2008
Links
Education
- MD Semmelweis University, Medical School, Budapest, Hungary, 1995.
- PhD Semmelweis University, Medical School, Budapest, Hungary, 1997.
- MS Albert Einstein College of Medicine, Bronx, NY, 2004.
Description of Research Expertise
Research interest: Work in my laboratory is aimed toward the understanding of molecular pathways that govern chronic kidney disease development.
Research details
Chronic kidney disease is an enormous burden on society. Our team aims to understand the genetics and molecular mechanism of kidney disease development, with the ultimate goal of finding new, more effective therapies.
We made discoveries fundamental towards defining critical genes, cell types and mechanisms of chronic kidney disease. Our studies were instrumental in defining genetic, epigenetic and transcriptional changes in diseased human kidneys. We identified multiple novel kidney disease genes and demonstrated role of Notch signaling and metabolic dysregulation in kidney disease development.
Our 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.
Our team generated the first unbiased, comprehensive kidney cell-type atlas using single cell transcriptomics. We identified that specific renal endophenotypes are linked and likely caused by the dysfunction of specific cell types.
In follow-up animal model studies, we conclusively demonstrated that MANBA, DAB2, CASP9, DPEP1/CHMP1A, 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.
Our discoveries span genetics, genomics, epigenetics, molecular biology, physiology and nephrology, and have enormous translational relevance and considerable therapeutic potential.
Selected Publications
Deshpande RS, Langham MC, Susztak K, Wehrli FW.: MRI-based quantification of whole-organ renal metabolic rate of oxygen. NMR Biomed 2024.
Mukhi D, Li L, Liu H, Doke T, Kolligundla LP, Ha E, Klötzer KA, Abedini A, Mukherjee S, Wu J, Dhillon P, Hu H, Guan D, Funai K, Uehara K, Titchenell PM, Baur JA, Wellen KE, Susztak K.: ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules. J Clin Invest Dec 2023.
Latt KZ, Yoshida T, Shrivastav S, Abedini A, Reece JM, Sun Z, Lee H, Okamoto K, Dagur P, Heymann J, Zhao Y, Chung JY, Hewitt S, Jose PA, Lee K, He JC, Winkler CA, Knepper MA, Kino T, Rosenberg AZ, Susztak K, Kopp JB.: HIV viral protein R induces loss of DCT1-type renal tubules. bioRxiv Nov 2023.
Zhou J, Abedini A, Balzer MS, Shrestha R, Dhillon P, Liu H, Hu H, Susztak K.: Unified Mouse and Human Kidney Single-Cell Expression Atlas Reveal Commonalities and Differences in Disease States. J Am Soc Nephrol 34: 1843-1862, Nov 2023.
Hung AM, Assimon VA, Chen HC, Yu Z, Vlasschaert C, Triozzi JL, Chan H, Wheless L, Wilson O, Shah SC, Mack T, Thompson T, Matheny ME, Chandrasekar S, Mozaffari SV, Chung CP, Tsao P, Susztak K, Siew ED, Estrada K, Gaziano JM, Graham RR, Tao R, Hoek M, Robinson-Cohen C, Green EM, Bick AG; Million Veteran Program.: Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease. J Am Soc Nephrol 34: 1889-1899, Nov 2023.
Levinsohn J, Li S, Ha E, Susztak K.: Combing Genome-Wide Association Studies and Single-Cell Analysis to Elucidate the Mechanisms of Kidney Disease: Proceedings of the Henry Shavelle Professorship. Glomerular Dis 3: 258-265, Oct 2023.
Onodera T, Wang MY, Rutkowski JM, Deja S, Chen S, Balzer MS, Kim DS, Sun X, An YA, Field BC, Lee C, Matsuo EI, Mizerska M, Sanjana I, Fujiwara N, Kusminski CM, Gordillo R, Gautron L, Marciano DK, Hu MC, Burgess SC, Susztak K, Moe OW, Scherer PE.: Endogenous renal adiponectin drives gluconeogenesis through enhancing pyruvate and fatty acid utilization. Nat Commun 14: 6531, Oct 2023.
Abedini A, Sanchez-Navarro A, Wu J, Klötzer KA, Ma Z, Poudel B, Doke T, Balzer MS, Frederick J, Cernecka H, Liu H, Liang X, Vitale S, Kolkhof P, Susztak K.: Single-cell transcriptomics and chromatin accessibility profiling elucidate the kidney protective mechanism of mineralocorticoid receptor antagonists. J Clin Invest Oct 2023.
Zhang Z, Mathew D, Lim T, Mason K, Martinez CM, Huang S, Wherry EJ, Susztak K, Minn AJ, Ma Z, Zhang NR.: Signal recovery in single cell batch integration. bioRxiv Sep 2023.
Hirohama D, Abedini A, Moon S, Surapaneni A, Dillon ST, Vassalotti A, Liu H, Doke T, Martinez V, Md Dom Z, Karihaloo A, Palmer MB, Coresh J, Grams ME, Niewczas MA, Susztak K.: Unbiased Human Kidney Tissue Proteomics Identifies Matrix Metalloproteinase 7 as a Kidney Disease Biomarker. J Am Soc Nephrol 34: 1279-1291, Jul 2023.