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Using transcriptomics and ex vivo organotypic models to discover mechanisms of APOL1-associated podocytopathies

Chronic kidney disease (CKD) is a progressive disease that results in the gradual loss of kidney function over time, leading to kidney failure and a need for dialysis or kidney transplantation. CKD is a leading cause of morbidity and mortality in the United States, affecting near 15% of the adult population, and imposing an important economic burden on the healthcare system. Moreover, CKD contributes to health disparities as certain minorities including African Americans, Hispanics, and Native Americans, have a higher prevalence of this disease.
Among African Americans, a substantial part of the excess risk for CKD is explained by the presence of genetic variants in the APOL1 gene that are unique to African ancestral populations. However, the exact mechanisms responsible for this genetic association remain unclear, hindering the development of specific therapies. To address this issue, our research focuses on studying the glomerular and single-cell transcriptomes of kidneys and organ models to identify transcriptional phenotypes associated with APOL1 kidney risk variants. By extracting gene signatures, we aim to better understand the pathobiology of APOL1 and identify potential therapeutic agents.