Lecture Code : PL01-S1
Session Name : Plenary Lecture 1
Session Topic : Plenary Lecture 1
Date & Time, Place : June 11 (Thu) / 17:40-18:30 / Auditorium, 3F

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APOL1: from Genome Discovery to Clinical Practice

Barry Freedman
Wake Forest University School of Medicine, United States

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Title APOL1: from Genome Discovery to Clinical Practice Author Barry I. Freedman, MD Nephrologists order genetic testing panels to clarify diagnoses in patients with diverse presentations of kidney disease. This was not the case prior to the current era of precision medicine. In the past, elevated blood sugars and blood pressures were felt to be the primary factors that initiated diabetic and mis-labeled “hypertensive” nephropathy. In addition, the markedly higher incidence rates of kidney failure in African Americans relative to European, Asian, and Hispanic Americans were poorly understood. This changed with recognition of marked familial aggregation of kidney failure, particularly in the African American population. The 2010 discovery of the apolipoprotein L1 gene (APOL1) association with chronic kidney disease demonstrated that two coding variants in a single gene caused more than 35% of kidney failure in the African American population. APOL1 explains ancestry-based disparities in incidence rates of nephropathy, as well as outcomes after kidney transplantation and live kidney donation. This lecture reviews the APOL1 discovery and its resultant changes in our understanding of susceptibility to kidney disease. Novel therapies are reviewed with an emphasis on effects in native APOL1 kidney disease and impacts of APOL1 genotyping in kidney transplantation.

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