Pioneering new programme to drive Alport syndrome research
We are delighted to announce that, in partnership with the Stoneygate Trust, we will be launching a brand-new programme to accelerate research, transform early diagnosis and to develop specific treatments for Alport syndrome: The Stoneygate and Kidney Research UK Alport Research Hub.
The programme is designed to make sure the best research happens with the best people in the most efficient way and this model of funding could be the way we tackle many different kidney diseases and conditions in the future.
What is Alport syndrome?
Alport syndrome is a rare genetic disorder, but it is the second most common cause of inherited chronic kidney disease after polycystic kidney disease.
It is caused by faults in the genetic code for a particular type of collagen protein. This collagen protein is important for the normal structure and function of the kidney’s filtering system and its disruption causes progressive loss of kidney function. It can also cause hearing loss and eye problems.
Thanks to better genetic testing and the use of drugs called ACE (Angiotensin Converting Enzyme) inhibitors, which slow down the loss of kidney function, the diagnosis and treatment of Alport syndrome have improved in the last decade. However, more progress is urgently needed. Our researchers have the expertise, passion and skills needed to accelerate progress and we believe that we will see major advances within the next decade.
What is the Stoneygate and Kidney Research UK – Alport research hub?
With a £2.55 million investment from the Stoneygate Trust, we are establishing a UK hub for Alport syndrome in early 2022.
The hub will be directed by Professor Rachel Lennon from the University of Manchester, in collaboration with Professor Daniel Gale from University College London and Professor Neil Turner from the University of Edinburgh, all hugely accomplished leaders in the field.
The hub will be made up of:
- A physical hub for research based in Rachel’s lab in Manchester. Rachel’s lab has all the expertise and resources a researcher could need to study Alport syndrome and test potential new treatments, including animal models and miniature kidneys in dishes. Rachel also has excellent links with patient groups. This means all projects can hit the ground running with no delays or teething problems!
- A virtual hub, led by Daniel, using the rare disease kidney registry, RaDaR, with over 850 patients with abnormal Alport genes to help understand both the genetic and environmental factors that affect, and may predict, how quickly Alport syndrome progresses.
The programme will include two research projects that have already been decided: one looking at the possibility of gene therapy for Alport syndrome, and one searching for new, more sensitive, biomarkers for disease progression in blood and urine.
There will also be a restricted fund for an open call for three new project grants to encourage innovative ideas and potentially nurture new researchers in their academic careers in the kidney field.
Rachel, director of the Alport research hub said: “This Kidney Research UK-Stoneygate award to establish a UK hub for Alport Research is fabulous news and it will transform our ability to increase awareness, improve understanding of the condition and to accelerate new treatment options for patients. It is a huge privilege to be leading this initiative from a physical hub Manchester and to integrate with a vibrant virtual network of Alport researchers in the UK.”
Daniel said: “I am delighted to be part of this exciting project. Rare diseases can have a devastating impact on the lives of people affected but, because they are rare, sometimes they lack the critical mass of researchers studying them that is needed to enable rapid improvements in treatment. This new Hub will help address this for Alport Syndrome by providing infrastructure and support that will catalyse large-scale, high quality and innovative research which will hopefully have a substantial impact on treatments available for people with this disease in the future. I will be part of a team that brings together expertise in genetic sequencing, gene therapy and cell biology. We aim to use new types of genetic tests and gene therapies to identify and then replace the faulty gene in each individual patient.”
What could this mean for patients?
By bringing together the best ideas, expertise and resources, this programme should really accelerate progress and translation of research findings into improved clinical interventions. It could begin to produce important results as early as three years in, with potential to have major impact in 5–10 years.
Sandra Currie, chief executive of Kidney Research UK said: “We are excited to be embarking on this new collaborative way of working, and extremely grateful that the Trustees of Stoneygate Trust have been so supportive of this pioneering approach. We know that by bringing together some of the world’s leading researchers in Alport syndrome and providing a base with a wealth of facilities and expertise, we will accelerate the discovery and testing of new treatments. This will bring improved prospects for everyone diagnosed and may even lead to gene therapy to minimise the effect of the syndrome for families across the world”
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