Investigation of Inherited Kidney Disease using Modern Genetics
Research type
Research Study
Full title
Investigation of Rare and Inherited Kidney Disease using Modern Genetic Techniques
IRAS ID
190723
Contact name
Paul J Phelan
Contact email
Sponsor organisation
Lothian NHS Health Board
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
We are currently in the era of affordable and available modern techniques for the interrogation of genetic disease. Nephrology is a specialty comprising a lot of rare and inherited disease, so a fertile ground for this form of investigation. We hope to identify families with unexplained kidney disease by reviewing our renal patient database. We will then enrol them in our study, if they consent, with a plan to perform genetic analysis. This will be either by studying a small number of suspect genes or using modern techniques, namely next generation sequencing. Next generation sequencing allows the researcher to examine all of a persons the genes or all of their DNA in one test. This increased power has led to a higher likelihood of determining a causative gene and has revolutionized modern genetics.
The goal of the study is to discover new genes associated with kidney disease. This will hopefully help us understand the mechanism of kidney disease and in the future, possibly new treatments for genetic and non-genetic kidney conditions.REC name
South East Scotland REC 02
REC reference
16/SS/0071
Date of REC Opinion
4 Aug 2016
REC opinion
Further Information Favourable Opinion