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Dr. Marcus Pezzolesi Receives R01 Funding for Gene Discovery Research

Apr 15, 2021

The Division of Nephrology & Hypertension congratulates Dr. Marcus Pezzolesi, Associate Professor, for his new R01 funded project, “Genetic & Functional Analysis of Rapid Renal Decline in Diabetes: A Family-based Approach to Accelerate Gene Discovery.” This is a 4-year award (5/1/21 – 4/30/25) funded for $2.6 million dollars.

Project Overview

Diabetic nephropathy (DN) is a complex, heterogeneous complication of diabetes that is characterized by progressive renal decline, the genetic basis of which is not well understood. To advance this area of research, the Pezzolesi lab has developed an innovative family-based approach to accelerate gene discovery in DN that leverages one of the world’s largest and well-characterized cohorts of diabetic patients with rapid progression of renal decline and genealogy data from the Utah Population Database. Using this approach, they have identified putative disease-causing variants in 2 genes not previously known to contribute to DN. The proposed research will determine the functional roles of these genes in rapid renal decline and expand upon this study by performing whole exome sequencing-based gene discovery in additional, newly identified high-risk pedigrees enriched for rapid renal decline and investigate the biological impact of the identified candidate genes.