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New UK hub launched to accelerate treatment and awareness for rare disease

A new research programme dedicated to the study and treatment of rare genetic disorder, Alport syndrome, will begin work in early 2022. The Stoneygate and Kidney Research UK – Alport Research Hub aims to accelerate research, transform early diagnosis and develop specific treatments for the disease.

Although Alport syndrome is a rare genetic disorder, it is the second most common cause of inherited chronic kidney disease. It is caused by faults in the genetic code for a particular type of collagen protein essential to the normal structure and function of the kidney’s filtering system. Disruption of this protein causes progressive loss in kidney function. It can also cause hearing loss and eye problems.

With support from Kidney Research UK and a £2.55 million investment from the Stoneygate Trust, the Manchester-based hub will be fronted 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. Researchers are hopeful that the Alport Research Hub can be used as a model to tackle many different kidney diseases and conditions in the future.

The Hub will have a physical base at the Wellcome Trust Centre for Cell-Matrix Research in Manchester. The Centre is focussed on investigating the mechanisms underpinning cell-matrix interactions, and how their disruption causes conditions such as kidney disease. Here a platform of new technologies will be used to test treatments in in kidney organoids and other models of Alport syndrome. A virtual aspect of the hub will use a database of 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.

Professor Rachel Lennon, Professor of Nephrology at the University of Manchester said: “Rare diseases have an enormous impact on an individual’s life, and they do not attract the critical mass of researchers required to enable rapid improvements in treatment. 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. By bringing together expertise in cell and matrix biology, genetics and clinical practice, we aim to improve genetic testing and to progress a range of therapy options to extend kidney survival in patients with Alport syndrome.”

Sandra Currie, chief executive of Kidney Research UK said: “Rare diseases offer a unique challenge to charities such as ours and the overall scientific community. Often, there are limited resources attributed to sourcing new treatments as well as an overall lack of understanding into the causes, impacts and ways to treat them. Embarking on this new collaborative way of working, we are tackling this issue head on by bringing together a wealth of facilities and expertise. With this new Hub, we have the potential to accelerate the discovery and testing of new treatments and possibly even a cure through gene therapy.”

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Emma Cooper
Emma Cooper
Emma is Digital Editor at Pf.

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