Presented By: DCMB Seminar Series
DCMB Weekly Seminar
Matthew G. Sampson, M.D., "Beyond Mendel: Complex trait & multi-omic strategies for nephrotic syndrome discovery"
Nephrotic syndrome (NS), a kidney disease caused by failure of the glomerular filtration barrier, leads to substantial morbidity and mortality due to infection, clotting, and progression to chronic kidney disease. Our ability to effectively care for our patients with NS is hampered by a limited understanding of its underlying molecular mechanisms. Major progress has been made through the discovery of more than 50 single-gene causes of NS. But altogether these explain less than 15% of cases in the U.S. To gain a more complete picture of the genetic architecture of NS, we need to go beyond Mendelian gene discovery. In this seminar, I will present work done by our group to achieve this goal, with a particular focus on unique opportunities that result from integrating genome-scale omics datasets with deep phenotypic data in the longitudinal NEPTUNE NS cohort.
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