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Approved Research

Rare variant burden and polygenic risk in PKD and Alport syndrome disease severity

Principal Investigator: Dr Katherine Benson
Approved Research ID: 76398
Approval date: October 19th 2021

Lay summary

Although genomics has been transformative in diagnostics for inherited renal disease, there is considerable unexplained variance in disease severity. Patients from the same family, with the same underlying disease-causing genetic variant can present in very different ways, with different levels of disease severity. We aim to better understand why this is the case.

Recent work from our group has demonstrated that disease progression in polycystic kidney disease can be influenced many multiple genetic variants, not just a single genetic change. We are now keen to further this work with help from data available in the UK BioBank as well as data from our own centre and international collaborators. This project is expected to span over approximately three years.

Describing predictors of disease severity will provide useful prognostic information to clinicians and geneticists and help describe atypical cases of inherited kidney disease.