What can large datasets teach us about different experiences of Alport Syndrome?
Professor Danny Gale, from University College London, has been awarded a PhD studentship of £91,000 by Kidney Research UK to investigate the genetic factors the contribute to Alport syndrome by looking at large datasets.
The problem
DNA is the genetic material that tells our cells how to make the proteins that our bodies need to function properly. Sometimes, there are mistakes in specific parts of our DNA (‘genes’), these are known as mutations and can lead to certain diseases, including Alport syndrome
Alport syndrome is an important, although rare, cause of kidney disease that is usually occurs when an individual has two faulty copies (or one faulty and one absent copy) of one of three particular genes. Sometimes people with one faulty and one normal copy of a gene linked to Alport syndrome are at increased risk of kidney disease, but the overall risk of kidney failure in such people is not known.
The solution
Databases with DNA sequences from over 500,000 people (the UK Biobank and the 100,000 Genomes Project) will be studied to better understand the impact of genetic changes on kidney symptoms in Alport syndrome, with the aim of discovering new genes linked to disease severity.
The team from University College London will also use the databases to see if genes linked to disease severity in animal studies are also important in humans.
“There is still much to learn about Alport Syndrome, especially why its severity can vary so much. The grant from Kidney Research UK will allow us to look more closely at how people’s overall genetic makeup contributes to this, providing important new information to improve patient support, diagnosis and potentially treatment options.”
Professor Danny Gale
What this means for kidney patients
By finding genes that impact the severity of Alport Syndrome symptoms, Professor Gale’s work might help to identify those people at greatest risk of severe kidney damage. This information might also help us to better understand how kidneys can be protected in people with Alport syndrome, potentially leading to new treatments in the future.
Additionally, this work will support an improved understanding of how Alport syndrome can affect families and might allow detection of people at particularly high, or low, risk of future disease. This could allow early screening and might even be used to inform decisions around kidney donation.
Are you a researcher?
Do you have an interest in Alport Syndrome and would your research have the potential to help our understanding and transform the outcomes for Alport patients? We have a new research grant dedicated to the study of Alport syndrome.