| Title: | GWAS and genetics study of end stage renal failure and cystic kidney disease |
| Lead Institution: | Newcastle University |
| Principal investigator: | Professor John Sayer |
Application 43879
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About
This project will explore what additional genetic effects change the disease severity in patients with cystic kidney disease and kidney failure. It is known that even though genes responsible for these disorders are understood, that there are additional factors, known as modifier genes, that change the clinical outcome of these diseases. Using the UK biobank data will allow us to rapidly explore whether a possible disease modifier gene we have identified from previous work is contributing. We will also look for new genetic causes of cystic kidney disease by exploring genetic variants in associated genes.3 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 8187 | A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families | Eric Olinger (+17) | 2021 | Human Mutation |
| 10430 | An intermediate-effect size variant in UMOD confers risk for chronic kidney disease | Eric Olinger (+83) | 2022 | Proceedings of the National Academy of Sciences of the United States of America |
| 10866 | Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype | Sarah R. Senum (+28) | 2021 | American Journal of Human Genetics |
Enabling scientific discoveries that improve human health