Alport syndrome is a rare condition and the second most common form of genetic kidney disease. It is caused by genes that are needed to create a type of collagen that plays a key role in kidney function.
Currently, there is no cure for Alport syndrome. The available treatments aim to slow the progression of kidney disease and to alleviate symptoms. There is a great need for more targeted and effective therapies to treat Alport syndrome.
The Stoneygate and Kidney Research UK Alport Research Hub, was created thanks to a £2.55M investment from Stoneygate Trust in partnership with charity Kidney Research UK, and with Alport UK as a collaborator. The hub aims to transform early diagnosis and specific treatments for patients with Alport syndrome.
About Alport syndrome
Alport syndrome is a genetic condition affecting the function of the kidneys. It can also cause problems with hearing health and with eyes.
Alport syndrome is caused by variants in the Alport genes, COL4A3, COL4A4 or COL4A5. These variants affect the formation of a type of collagen known as collagen IV-alpha 3,4,5 which is important for the long term function of kidneys, ears and eyes.
What is the Stoneygate and Kidney Research UK Alport Research Hub?
The Stoneygate and Kidney Research UK Alport Research Hub aims to accelerate the discovery and translation of research findings into improved clinical interventions. The Hub also aims to support and enhance the strong, collaborative Alport network and to raise the profile of Alport research across the world. We want to:
- improve the understanding of disease mechanisms in Alport syndrome;
- identify genetic and clinical risk factors for more severe forms of the disease;
- drive robust preclinical testing of new treatments for Alport syndrome.
Our hub will do this through activities at a physical hub in Manchester, and via a virtual hub focusing on data analysis and sequencing.
Physical hub
The physical Hub is based in the Manchester Cell-Matrix Centre at The University of Manchester and is led by Rachel Lennon.
It offers:
- experimental systems to study Alport syndrome including human kidney organoids, zebrafish and mouse models;
- advanced imaging and multiomics to investigate cells and tissues;
- detailed analysis of basement membrane function;
- a platform for testing new and existing therapies, including gene therapies and small molecules.
Systems used to investigate Alport syndrome
These systems allow us to run assays in cells and in tissues, carry out detailed analysis of basement membrane function and test new drugs and gene therapies.
Virtual hub
The virtual Hub is led by Daniel Gale, Neil Turner and Angela Branson.
The National Registry of Rare Kidney Disease (RaDaR) is an initiative of the UK Kidney Association (UKKA). Through the RaDaR database, the Hub is able to analyse clinical and genetic data from individuals with Alport syndrome. One of our Hub priorities is to ensure that the data available in RaDaR for our Alport cohort is as complete and as rich as possible. We are linking in with Hospital sites across the UK to push this agenda for our patients.
In association with Genomics England, whole genome sequencing will be performed on samples from individuals with Alport syndrome. We will use RaDaR to identify and invite patients and families to participate in this project. Information regarding recruitment events will also be distributed on Alport UK’s social media platforms to ensure that everyone has opportunity to participate in this exciting project.
The combined analysis from RaDaR and genomic sequencing will help us to understand how genetic and environmental factors influence Alport syndrome.
Our aim is to help identify those at greatest risk who most need treatment, and to find new targets for treatments that should protect Alport kidneys.
Work with us
If you have an interest in Alport syndrome and you’re a patient, researcher or work in industry, there are ways you can work with us. Find out how:
Industry
Discover industrial collaborations and explore the research hub’s offerings.
Patients
Learn how to join our research, explore clinical trials, and access support.
Researchers
Explore hub projects and find out about funding opportunities.
Our partners
Kidney Research UK
Kidney Research UK is the leading charity in the UK focused on funding research into the prevention, treatment and management of kidney disease. Its vision is the day when everyone lives free from kidney disease. For more than 60 years the research it funds has been making an impact.
Kidney Research UK works with clinicians and scientists across the UK. It collaborates with partners across the public, private and third sectors to prevent kidney disease and drive innovation to transform treatments.
Over the last ten years the charity has invested more than £58 million into research. It lobbies governments and decision makers to change policy and practice to ensure that more than 7.1 million people living with kidney disease in the UK have access to the most effective care and treatment, and to make kidney disease a priority.
Most importantly, the patient voice is at the centre of everything at Kidney Research UK. Patients, carers and families inspire the charity’s mission and push it forward to make a difference and change the future of kidney disease.
Stoneygate Trust
The Stoneygate Trust funds scientific initiatives across a broad range of medical research fields. The Trust also supports educational initiatives which help bright and enthusiastic students excel.
Alport UK
Alport UK is a patient-led organisation dedicated to empowering individuals and families living with Alport syndrome to enjoy the best possible quality of life.
Our team
The Alport Research Hub team comprises colleagues from The University of Manchester, University College London, University of Edinburgh, the University of Nottingham, and the University of Birmingham.
Physical hub
- Rachel Lennon
- Bernard Davenport
- Richard Naylor
- Pinyuan Tian
- Emily Williams
Virtual hub
- Daniel Gale
- Neil Turner
- Angela Branson
Hub Collaborators
- Kenton Arkill
- Lorna Milne
- Dan Jagger
- Sherlyanne Newton
- Devin Peipert
- Sarah Huges
News
Read the latest updates on our activities and events on our blog and our original research, reviews and workshop reports.
Publications
Recent top ten publications showcasing key research discoveries and developments.
- Ageing impacts extracellular matrix turnover and remodelling in the kidney
- A collagen IV fluorophore knock-in toolkit reveals trimer diversity in C. elegans basement membranes
- Increased in vivo transduction of AAV-9 cargo in Alport podocytes
- Are we ACE-ing the early treatment of Alport syndrome?
- Proteomic profiling of kidney biopsies in nephrotic syndrome
- Collagen formation, function and role in kidney disease
- The glomerular circadian clock temporally regulates basement membrane dynamics and the podocyte glucocorticoid response
- A guide to gene-disease relationships in nephrology
- Detection of Alport gene variants in children and young people with persistent haematuria
- SGLT2-Inhibition in patients with Alport syndrome
Contact us
If you have any queries about the Alport Research Hub and our activities, please get in touch.
Rachel Lennon (University of Manchester)
Email: rachel.lennon@manchester.ac.uk
Daniel Gale (University College London)
Email: d.gale@ucl.ac.uk
Neil Turner (University of Edinburgh)
Email: neil.turner@ed.ac.uk
Contact Us
+44 (0) 161 306 6000
