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Understanding and curing genetic kidney disease

Bristol Medical School

, Applications accepted all year round Self-Funded PhD Students Only

About the Project

Steroid Resistant Nephrotic syndrome (SRNS) is a rare kidney condition which causes excess fluid to be retained in the body which causes swelling (oedema). This is most common in the face, eye lids, and ankles. The vast majority of patients with genetic forms of SRNS are children, and currently have no effective therapies. SRNS causes kidney failure with lifelong morbidity, limitation of lifespan, and massive healthcare costs/patient [1-2]. There are currently over 60 different genes known to cause SRNS if mutated (overall incidence 2-5/100,000/yr), directly affecting the glomerular podocyte. 60% of patients reach end stage kidney disease within 4 years of diagnosis, requiring dialysis or renal transplant. There is an unmet need for medical therapies for genetic forms of nephrotic syndrome, which would ideally induce remission and prevent the progression to chronic kidney disease. On a broader scale, genetic targeting of the podocyte would open up the field of glomerular disease therapies.

A high proportion of patients with SRNS will have an underlying genetic cause. Many single gene mutations, as well as the impact of variants of genes on disease behaviour, remain unknown. We have established two cohorts of patients with SRNS: NephroS and NURTuRE (National Unified Renal Translational Research Enterprise, cohort) both of which collect ongoing, granular clinical data on children and adults with INS in the UK, as well as DNA for whole genome sequencing.

There are two projects that arise from the availability of these well-defined patient cohorts:

1. The first project will combine bioinformatics with functional biology. Using the large data sets obtained from the cohorts, it will develop the skillsets in this particular disease area of detailed statistical modelling of genotype/phenotype correlations, genetic variant profiling and development of mathematical/computational algorithms for large-scale data analysis. We propose to discover the extent of genetic variation in this cohort over the whole genome, and map this to detailed disease manifestations (e.g. response to medicines), for clinical utility and disease stratification.
2. The second project we further develop adenoviral gene therapy and novel drug approaches to correct identified genetic defects in the target cell, the podocyte.

Both projects will further the knowledge of genetic pathways of NS and contribute to the development of improved genetic testing and new therapies for patients with these diseases.


1. Bierzynska, A & Saleem, M.A. Deriving and understanding the risk of post-transplant recurrence of nephrotic syndrome in the light of current molecular and genetic advances. Pediatr Nephrol. 2018; 33(11): 2027–2035.

2. Bierzynska, A. & Saleem, M.A. Recent advances in the understanding and treating nephrotic syndrome. F1000Res. 2017; 6: 121.

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