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Genetic mechanisms of chronic kidney disease

Faculty of Biology, Medicine and Health

About the Project

Chronic kidney disease (CKD) is one of the most common complex disorders. The prevalence of CKD is on the rise in all populations around the globe and both the clinical and economic pressures of CKD on the healthcare systems increase exponentially. Biologically, CKD is a product of interactions between genes and environmental factors that lead to gradual decline in the kidney function (for example – glomerular filtration rate) and structural damage to the renal cells. The recent genome-wide association studies (GWAS) have uncovered over one hundred common genetic variants associated with CKD but the functional mechanisms underpinning these associations remain largely unknown. Given that a majority of the variants associated with CKD map to non-coding regions of the genome, the most likely mechanism through which they operate is the quantitative effect on the renal gene expression.

The key hypothesis of this project is that genetic variants associated with the predisposition to CKD in GWAS lead to activation/repression of specific transcriptional and epigenetic programmes in the kidney and subsequent alterations of renal function and structure. We propose that integration of DNA-derived information with kidney transcriptome- and epigenome-wide analyses may fully elucidate the genetic mechanisms of CKD.

The project will build up on our experience in genomics/transcriptomics/epigenomics and a unique collection of 500 human kidney samples collected in several studies. All these samples were already genotyped using DNA array with a genome-wide coverage and examined by state-of-the-art methods of transcriptome and epigenome profiling. The analytical pipelines required to integrate these data have been established locally.

The outcomes from this project will determine genetic and molecular footprints of CKD fostering the development of new diagnostic tests, tailored therapeutic strategies and paving the way to precision medicine for CKD.

Entry requirements
Candidates are expected to hold (or be about to obtain) a minimum upper second class honours degree (or equivalent) in the area of molecular biology, genetics, genetic statistics or bioinformatics. Candidates with experience in bioinformatics or with an interest in genetics of complex, polygenic disorders are encouraged to apply. For information on how to apply for this project, please visit the Faculty of Biology, Medicine and Health Doctoral Academy website ( Informal enquiries may be made directly to the primary supervisor.

For international students we also offer a unique 4 year PhD programme that gives you the opportunity to undertake an accredited Teaching Certificate whilst carrying out an independent research project across a range of biological, medical and health sciences. For more information please visit

Funding Notes

Applications are invited from self-funded students. This project has a Band 1 fee. Details of our different fee bands can be found on our website (View Website). For information on how to apply for this project, please visit the Faculty of Biology, Medicine and Health Doctoral Academy website (View Website).

As an equal opportunities institution we welcome applicants from all sections of the community regardless of gender, ethnicity, disability, sexual orientation and transgender status. All appointments are made on merit.


Pattaro C, et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nature Communications 2016;7:10023.

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