| Title: | Rare genetic variants in renal developmental genes and the development of chronic kidney disease |
| Lead Institution: | Children's Mercy Hospital |
| Principal investigator: | Dr Benjamin Spector |
Application 65332
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About
The specific aims of the proposed project are two-fold: 1) Identify rare genetic variants in the genes involved in kidney development that contribute to chronic kidney disease (CKD), and 2) Determine which stages in kidney development convey the greatest risk for CKD. The scientific premise for this project stems from the evidence in autopsy and animal studies that a lower total number of nephrons, the functional units of the kidney, increases risk of renal disease. Despite previous studies suggesting that CKD is 30-70% heritable, common variants in known genes only partially explain genetic risk in CKD. Few studies have looked at the role of rare variants and none specifically focus on genes involved in nephron development. We propose to use a rare variant collapsing analysis approach focusing on developmental genes to determine their role in genetic risk in CKD. Through the successful completion of this project, we anticipate the addition of invaluable knowledge regarding the genetic basis of CKD and a tool that will facilitate early detection and management of individuals at risk for CKD, which will translate into better patient outcomes. The expected completion of the proposed project, including manuscript submission, is summer of 2022.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15053 | Association of Rare Variants in Kidney Developmental Genes With Chronic Kidney Disease and Blood Pressure: A UK Biobank Study. | Benjamin L Spector (+5) | 2025 | WMJ |
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