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.

On this page:

1. About Alport syndrome
2. What is the Stoneygate and Kidney Research UK Alport Research Hub?
3. Work with us
4. Our partners
5. Our team
6. News and Publications
7. Contact us

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.

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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.

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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: 

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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. 

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Our team

The Alport Research Hub team comprises colleagues from The University of Manchester, University College London, University of Edinburgh and the University of Nottingham.

Physical hub

• Rachel Lennon 
• Bernard Davenport 
• Maryline Fresquet 
• Pinyuan Tian 
• Emily Williams
• Gema Bolas Gonzalez-lliberos 

Virtual hub 

• Daniel Gale 
• Neil Turner 
• Angela Branson 

Hub Collaborators 

• Dan Jagger 
• Kenton Arkill 
• Lorna Milne 

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News and Publications

Read the latest updates on our activities and events on our blog and our original research, reviews and workshop reports listed below.

1. Boeckhaus J, Gale DP, Simon J, Ding J, Zhang Y, Bergmann C, Turner AN, Hall M, Sayer JA, Srivastava S, Kang HG, Cerkauskaite-Kerpauskiene A, Gillion V, Claes KJ, Krueger B,  de Fallois J, Walden U, Choi M, Schueler M, Mueller RU, Todorova P, Hohenstein B, Zeisberg M, Friede T, Knebelmann B, Halbritter J, Gross O. SGLT2-Inhibition in patients with Alport syndrome. Kidney Int Reports. Sep 2024. PMID: 39698346. DOI: 1016/j.ekir.2024.09.014
2. Chew C, Brand OJ, Yamamura T, Lawless C, Morais MRPT, Zeef L, Lin IH, Howell G, Lui S, Lausecker F, Jagger C, Shaw TN, Krishnan S, McClure FA, Bridgeman H, Wemyss K, Konkel JE, Hussell T, Lennon R. Kidney resident macrophages have distinct subsets and multifunctional roles. Matrix Biol. 2024 Mar;127:23-37. PMID: 38331051. DOI: 1016/j.matbio.2024.02.002
3. Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. The 2019 and 2021 International Workshops on Alport Syndrome. Eur J Hum Genet. 2022 May;30(5):507-516. Erratum in: Eur J Hum Genet. 2024 Jan;32(1):130. PMID: 35260866. DOI: 1038/s41431-022-01075-0
4. De Gregorio V, Barua M, Lennon R. Collagen formation, function and role in kidney disease. Nat Rev Nephrol. 2024 Nov 15. Review. PMID: 39548215. DOI: 1038/s41581-024-00902-5
5. Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice. Genes (Basel). 2023 Aug 25;14(9):1686. PMID: 37761826. DOI: 3390/genes14091686
6. Eckersley A, Morais MR, Ozols M, Lennon R. Peptide location fingerprinting identifies structural alterations within basement membrane components in ageing kidney. Matrix Biol. 2023 Aug;121:167-178. PMID: 37437747. DOI: 1016/j.matbio.2023.07.001
7. Eckersley A, Yamamura T, Lennon R. Matrikines in kidney ageing and age-related disease. Curr Opin Nephrol Hypertens. 2023 Nov 1;32(6):551-558. 2023 Aug 16. PMID: 37584348. DOI: 1097/MNH.0000000000000916
8. Gale DP, Gross O, Wang F, Esteban de la Rosa RJ, Hall M, Sayer JA, Appel G, Hariri A, Liu S, Maski M, Shen Y, Zhang Q, Iqbal S, Kowthalam MU, Lin J, Ding J; HERA Clinical Trial Group. A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clin J Am Soc Nephrol. 2024 Aug 1;19(8):995-1004. PMID: 38829703. DOI: 2215/CJN.0000000000000458
9. Gibson JT, Sadeghi-Alavijeh O, Gale DP, Rothe H; Genomics England Research Consortium; Savige J. Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome. Sci Rep. 2022 Jul 4;12(1):11257. PMID: 35789182. DOI: 1038/s41598-022-14928-x
10. Jayadev R, Morais MRPT, Ellingford JM, Srinivasan S, Naylor RW, Lawless C, Li AS, Ingham JF, Hastie E, Chi Q, Fresquet M, Koudis NM, Thomas HB, O’Keefe RT, Williams E, Adamson A, Stuart HM, Banka S, Smedley D; Genomics England Research Consortium; Sherwood DR, Lennon R. A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations. Sci Adv. 2022 May 20;8(20): PMID: 35584218. DOI: 1126/sciadv.abn2265
11. KDIGO Conference Participants. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2022 Jun;101(6):1126-1141. PMID: 35460632. DOI: 1016/j.kint.2022.03.019
12. Mohamed M, Tellez J, Bergmann C, Gale DP, Sayer JA, Olinger E. Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. Ann Hum Genet. 2022 May;86(3):145-152. PMID: 34888854. DOI: 1111/ahg.12454
13. Naylor RW, Lemarie E, Jackson-Crawford A, Davenport JB, Mironov A, Lowe M, Lennon R. A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish. Kidney Int. 2022 Oct;102(4):815-827. PMID: 35716957. DOI: 1016/j.kint.2022.05.019
14. Naylor RW, Watson E, Williamson S, Preston R, Davenport JB, Thornton N, Lowe M, Williams M, Lennon R. Basement membrane defects in CD151-associated glomerular disease. Pediatr Nephrol. 2022 Dec;37(12):3105-3115. PMID: 35278129. DOI: 1007/s00467-022-05447-y
15. Ng NSL, Yamamura T, Shenoy M, Stuart HM, Lennon R. Detection of Alport gene variants in children and young people with persistent haematuria. Pediatr Nephrol. 2024 Oct 1. PMID: 39349776. DOI: 1007/s00467-024-06538-8
16. Perrone RD, Oberdhan D, Ouyang J, Bichet DG, Budde K, Chapman AB, Gitomer BY, Horie S, Ong ACM, Torres VE, Turner AN, Krasa H. OVERTURE: A Worldwide, Prospective, Observational Study of Disease Characteristics in Patients With ADPKD.Kidney Int Rep. 2023 Feb 13;8(5):989-1001. PMID: 37180499. DOI: 1016/j.ekir.2023.02.1073
17. Preston R, Chrisp R, Dudek M, Morais MRPT, Tian P, Williams E, Naylor RW, Davenport B, Pathiranage DRJ, Benson E, Spiller DG, Bagnall J, Zeef L, Lawless C, Baker SM, Meng QJ, Lennon R. The glomerular circadian clock temporally regulates basement membrane dynamics and the podocyte glucocorticoid response. Kidney Int. 2024 Nov 6:S0085-2538(24)00778-6. PMID: 39515644. DOI: 1016/j.kint.2024.10.016
18. Preston R, Meng QJ, Lennon R. The dynamic kidney matrisome – is the circadian clock in control? Matrix Biol. 2022 Dec;114:138-155. PMID: 35569693. DOI: 1016/j.matbio.2022.05.005
19. Roser Torra, Beata Lipska-Ziętkiewicz, Frederic Acke, Corinne Antignac, Jan Ulrich Becker, Emilie Cornec-Le Gall, A.M. van Eerde, Nicolas Feltgen, Rosella Ferrari, Daniel Gale, Oliver Gross, Stefanie Haeberle, Laurence Heidet, Rachel Lennon, Laura Massella, Rezan Topaloglu, Kristina Pfau, Maria del Prado Venegas Pizarro Heidi Zealey on behalf of ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN. Nephrol, Dialysis, Transplantation 2024. PMID: 39673454. DOI: 1093/ndt/gfae265
20. Sadeghi-Alavijeh O, Chan MM, Doctor GT, Voinescu CD, Stuckey A, Kousathanas A, Ho AT, Stanescu HC, Bockenhauer D, Sandford RN, Levine AP, Gale DP. Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing. J Clin Invest. 2024 Aug 27;134(19):e181467. PMID: 39190485. DOI: 1172/JCI181467
21. Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Digenic Alport Syndrome. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. Erratum in: Clin J Am Soc Nephrol. 2023 Apr 1;18(4):511. PMID: 35675912. DOI: 2215/CJN.03120322
22. Srinivasan S, Ramos-Lewis W, Morais MRPT, Chi Q, Soh AWJ, Williams E, Lennon R, Sherwood DR. A collagen IV fluorophore knock-in toolkit reveals trimer diversity in C. elegans basement membranes. J Cell Biol. 2025 Jun 2;224. PMID: 40100062. DOI: 1083/jcb.202412118
23. Stark Z, Byrne AB, Sampson MG, Lennon R, Mallett AJ. A guide to gene-disease relationships in nephrology. Nat Rev Nephrol. 2024 Oct 23. PMID: 39443743. DOI: 1038/s41581-024-00900-7
24. Tian P, Koudis NM, Morais MRPT, Pickard A, Fresquet M, Adamson A, Derby B, Lennon R. Collagen IV assembly is influenced by fluid flow in kidney cell-derived matrices. Cells Dev. 2024 Sep;179:203923. PMID: 38670459. DOI: 1016/j.cdev.2024.203923
25. Williams E, Fresquet M, Bolas G, Kaseda S, Goncalves K, Steinsapir A, Adamson AD, Sherwood DR, Lennon R. Increased in vivo transduction of AAV-9 cargo in Alport podocytes. bioRxiv. 2025 Apr 28. DOI: 1101/2025.04.28.650965
26. Williams E, Fresquet M, Li AS, Lawless C, Knight D, Colby E, Watson J, Welsh GI, Saleem MA, Lennon R. Proteomic profiling of kidney biopsies in nephrotic syndrome. Wellcome Open Res. 2024 Dec 24;9:731. PMID: 39991116. DOI: 12688/wellcomeopenres.22633.1
27. Williamson SJ, Liebau M, Lennon R. Are we ACE-ing the early treatment of Alport syndrome? Pediatr Nephrol. 2025. PMID: 40237817. DOI: 1007/s00467-025-06722-4
28. Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Annear N, Barratt J, Bingham C, Chrysochou C, Coward RJ, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Taylor CM, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. Lancet. 2024 Mar 30;403(10433):1279-1289. PMID: 38492578. DOI: 1016/S0140-6736(23)02843-X 
29. Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Masoud S, Annear N, Barratt J, Bingham C, Coward RJ, Chrysochou T, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Thomas K, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Sy KTL, Huang K, Ye J, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort. Kidney Int Rep. 2024 May 9;9(7):2067-2083. PMID: 39081723. DOI: 10.1016/j.ekir.2024.04.062

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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  

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