PKD PhD Studentship for Dr Joe Cockburn

23 June 2022

We are thrilled to fund a PhD student to work on this project under the supervision of Dr Joe Cockburn. Joe will lead a journey of discovery through faults in the PKHD1 gene and will learn more about the impact they have on the developing kidney in ARPKD, the rare form of PKD.

Mutation, mutation, mutation

Autosomal recessive polycystic kidney disease (ARPKD) is a genetic kidney disorder that causes problems for kidney development during pregnancy. The damage can be so severe that around a third of babies born with ARPKD die within four weeks. Those who survive generally go on to develop end-stage renal failure by the age of 20. This provides a long therapeutic window for drugs to prolong the function of the kidney and slow the decline to end-stage renal failure.

There are currently no drugs licensed for the treatment of ARPKD. Given the devastating impact of this genetic condition on new-born babies, genetic counselling for would-be parents is essential. However, so little is known about the genetic faults that cause the disease that this is of limited use.

The solution

Up steps Joe from the University of Leeds. He wants to study the genetics of ARPKD very closely to determine what exactly is causing the problem.

Joe Cockburn

Genes are recipes for proteins written into our DNA. Imagine a recipe book with the odd word removed. Some of these omissions might make very little difference to our ability to follow the recipe. However, if one of the words missing was a key ingredient then we would have a problem. It is the same with genetic faults. Some make no difference at all whereas others can stop the protein doing the job it should. ARPKD is almost always caused by faults in a gene called PKHD1 which produces the protein fibrocystin.

Joe is going to employ a PhD student to look through 650 faults in PKHD1 and the effect that these faults have on the protein fibrocystin. The outcome of this ambitious project will be much greater awareness of the impact of different faults on the function of fibrocystin.

What this means for kidney patients

This information could be used to develop new treatments for ARPKD and to inform parents and would-be parents about the clinical course of ARPKD given their specific fault. This would lead to much more tailored decision-making since clinicians would be able to predict with much more accuracy how a child’s ARPKD might develop given details of the fault.

Joe said “This studentship will expand my research group’s activities to understand how genetic mutations cause inherited disorders that impact on kidney health. It will lead to improved genetic counselling for families affected by ARPKD and identify small molecules with the potential to be developed into drugs that improve the lives of ARPKD patients”

We will continue to give you updates on this research.