Computational Biology in Pediatric Kidney Disease

APOL1 associated proteinuric disease (from sampsonlab.org)

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.

Speakers: Matt Sampson, MD MSCE Matt is a pediatric nephrologist and genetic epidemiologist in the Department of Pediatrics and Communicable Diseases at the University of Michigan School of Medicine. He completed his residency and fellowship training at the Children's Hospital of Philadelphia and received his MS in Clinical Epidemiology with a focus on Human Genetics at the University of Pennsylvania. In addition to taking a "kidneyomics" research approach to glomerular disease, he cares for many children with diverse kidney diseases.  He seeks to identify those children with a likely genetic basis of their disease for inclusion in research studies and disease-based registries.

Michelle McNulty  Michelle is a statistical geneticist focusing on targeting causal genes through the integration of expression quantitative trait loci and nephrotic syndrome genome-wide association studies. During her graduate program, she studied the effects of heterogeneous populations on fine-mapping efforts. She obtained her Master's degree in Biostatistics as part of the Genome Science Training Program within the Center for Statistical Genetics at the University of Michigan School of Public Health