What are our research interests?

associated proteinuric disease
Recently, two genetic variants in apolipoprotein L1 (APOL1), common in African-Americans, were found to result in greatly increased risk of FSGS and progression of chronic kidney disease in African-Americans. The mechanism of APOL1's kidney damage is unknown. Therefore, we are interested in the clinical impact that these risk variants have on African-Americans, both adults and pediatric patients.

Our lab has identified participants in the Nephrotic Syndrome Study Network (NEPTUNE) who harbor the high-risk APOL1 genotype and paired this information with molecular, histologic, and longitudinal clinical data to discover their clinical and transcriptomic implications. In 2016, we published this work in the Journal of the American Society of Nephrology (link). Furthermore, earlier this year we collaborated on a study of the role of APOL1 in pediatric patients specifically in a NEPTUNE and the Chronic Kidney Disease in Children Study (CKiD) (link).

We continue to study APOL1-associated proteinuric kidney disease within more people and other cohorts using detailed genome-wide genetic and transcriptomic data and utilize robust bioinformatic and epidemiological approaches in hopes to better understand it's clinical implications. Our work in this area was recently funded by the NIDDK as our first RO1.

Monogenic forms of nephrotic syndrome in population cohorts
Ongoing work over the past two decades have identified more than 30 genes (link, link) that harbor rare genetic variants, that if present, are sufficient to cause nephrotic syndrome (monogenic nephrotic syndrome). There are also many important clinical correlates for patients whose nephrotic syndrome is caused by a monogenic cause. This creates many opportunities as well as challenges for genotyping nephrotic syndrome patients in this genomic era (link). Our lab is working to determine the prevalence and identify clinical correlates of known monogenic nephrotic syndrome in patients from U.S. population cohorts. We have published our initial study within the NEPTUNE cohort (link) and are pursuing a variety of analyses to further understand the genetic architecture of nephrotic syndrome from rare to common variants (link, link).

Integrated, systems genomics of nephrotic syndrome
Our lab is pairing genome-scale genetic and intrarenal transcriptomic data to discover novel genetic variants associated with gene expression (eQTLs) and to functionally characterize previously discovered kidney disease-associated genetic variants. We can then link these molecular data with histologic and clinical outcomes. With our collaborators from the University of Michigan Center for Statistical Genetics, we have performed whole genome sequencing, targeted exon sequencing, and SNP genotyping in hundreds of patients with nephrotic syndrome and other glomerular diseases. Our eQTL work is performed in close collaboration with the lab of Dr. Matthias Kretzler and the Applied Systems Biology Core of the University of Michigan O'Brien Kidney Center.