Principal Investigator: Professor John Sayer
Institution: Newcastle UniversityTags: 43879, cystic kidney disease, exome, genetic modifier, GWAS, kidney failure
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.