Description
Background: Kidney disease is an important cause of death and illness in the UK, costing up to 3% of the NHS budget. In many cases, the disease runs in families and is caused by a change in a gene. Many genes for kidney disease are already known. In some families, a gene that is causing disease has not been identified.
Project Summary: The renal GeCIP domain will analyse data from the 100,000 Genomes Project. The researchers want to define the range of changes in known kidney disease genes. They will also look for new genes that can cause kidney disease.
Aims: They aim to use the knowledge gained from their research to offer new and improved genetic tests to people with kidney disease. This would help explain to families why they are affected by kidney disease. It would also help families to make decisions, especially around having children and donating a kidney to a relative in need of a transplant.
The group will also use this new knowledge to better understand how changes in genes can cause kidney disease. This is an important step in designing new treatments for the disorders.
Below are the current subdomains for this domain. You can find the full details of the research proposed by this domain in the Renal GeCIP Detailed Research Plan.
| SUBDOMAIN | SUBDOMAIN LEAD/S |
|---|---|
| aHUS | David Kavanagh |
| Amyloidosis | Julian Gillmore |
| CAKUT | Helen Stuart |
| Cystic kidney disease | John Sayer Albert Ong |
| Early-onset hypertension | Ben Walsh |
| Familial haematuria | Helen Storey |
| Familial tubulointerstitial kidney disease in the young | Christine Gast Tom Connor |
| Proteinuric renal disease | Moin Saleem |
| Renal tract calcification (or Nephrolithiasis/nephrocalcinosis | Shabbir Moochhala |
| Renal tubular acidosis and other electrolyte disorders | Fiona Karet Detlef Bockenhauer |
| Validation and feedback | Maggie Williams |
| Bioinformatics | Horia Stanescu |
| Education and Training | Paul Winyard |
| Public and Patient Involvement | Tess Harris |
