Pathogenesis of APOL1-associated Kidney Diseases

Chronic Kidney Diseases (CKD) are common among African American patients. The excess risk for CKD in this population is largely explained by social determinants of health and by the presence of genetic variants in the APOL1 gene that are unique to African ancestral populations. The pathogenic mechanisms responsible for the genetic association remain poorly understood. Most importantly, the lack of consensus on the mechanisms by which APOL1 risk variants induce kidney diseases hinders the development of specific therapies.

Our major focus is to study glomerular and single-cell transcriptomes from kidneys and organ models to uncover transcriptional phenotypes associated with the presence of APOL1 kidney risk variants. Our goal is to extract gene signatures that could inform about the pathobiology of APOL1, and help to identify potential therapeutic agents. We work in association with large NIH consortia, in particular, the Nephrotic Syndrome Study Network (NEPTUNE) and the Kidney Precision Medicine Project (KPMP).