Of 7,000 hits to Knowledge Hub pages to June 2026, 2,400, around 1 in 3 (32%), were on Alport. That\u2019s over 100 per month. Cystic diseases accounted for another 20%.<\/p>\n
A further 4,400 hits were on Presentations, which provide guidance on testing (which genes when). About a third of these were on common presentations of Alport.<\/p>\n
Hub research<\/h2>\n
The Alport Hub research has two key elements: the Physical Hub which covers laboratory-based research in Manchester, Nottingham and London; and the Virtual Hub which includes research into human disease with genetics, epidemiology, and clinical studies across the UK.<\/p>\n
Physical Hub updates<\/h3>\nSpatio-temporal mapping of the Col4a5-\/Y mouse model of Alport syndrome to identify early biomarkers of focal kidney injury<\/h4>\n![\"Scientific](\"https:\/\/sites.manchester.ac.uk\/alport-hub\/wp-content\/uploads\/sites\/416\/2026\/08\/1_cortical_region_mouse_kidney_900x583.jpg\")
Image shows the cortical region of a Col4a5-\/Y mouse kidney. The markers are Hoechst (Blue), Cd44 (green), aSMA (yellow), DiD tracer (magenta). The DiD tracer indicates glomeruli that still have size selectivity filtration in this kidney. Interestingly, the glomeruli that are located within the Cd44+ injured region have lost their filtering function, whereas those outside the CD44+ region are still performing some filtration.<\/em><\/p><\/div>\nRichard Naylor has been continuing to characterise theCol4a5-\/Y mouse line to better understand how the disease progresses in this model and to help demonstrate our knowledge of the model for the growing number of commercial collaborators that are approaching the Hub.<\/p>\n
This analysis has highlighted a few new things that we didn’t know, here we will focus on findings regarding the CD44-Hyaluronan signalling axis:<\/p>\n
In Col4a5-\/Y mice, CD44 is an early marker of epithelial stress, switching on even before other more standard markers such as KIM1. CD44 is a receptor for numerous ligands, but an important one is hyaluronic acid. At very early stages of Alport syndrome in the Col4a5-\/Y mouse, there is production of hyaluronic acid by injured tubule cells, the same cells that are expressing CD44. As the disease progresses there is an accumulation of Cd44-Hyaluronic acid signalling. We have inhibited hyaluronic acid production in cells cultured on a dish and this causes a reduction in expression of genes involved in tissue scarring. Like all chronic kidney diseases, scarring (or fibrosis) is a major contributor to kidney failure and preventing or delaying its progression will likely extend the lifespan of a diseased kidney.<\/p>\n
Given the early appearance of CD44 in injured cells, and the profibrotic effects it has, it will be exciting to target this pathway in the next set of experiments and to test if it could be used in addition to ACE inhibitors in the treatment of Alport syndrome.<\/p>\n
The results of these findings will be presented as a selected talk at the Kidney Research UK Driving Discoveries 2026 conference on Thursday September 17th.<\/p>\n
Virtual Hub updates<\/h3>\nWhole Genome Sequencing (WGS)<\/h4>\n
We are getting ready to commence recruitment to this exciting project.<\/p>\n
Potential participants will be identified from the Alport cohort of the RaDaR database. Patients and families will be contacted and informed about the study by the central RaDaR team and if interested, our partner Sano get in touch directly to obtain eConsent and to ship out kits for mouth swab self-testing.<\/p>\n
This should help to ensure we are as inclusive as possible by reducing barriers to participation.<\/p>\n
The potential long term benefits are a greater understanding of other genes that affect progression and may indicate potential therapeutic strategies.<\/p>\n
It is more important than ever to ensure that all patients eligible for inclusion in RaDaR registry are given the opportunity to participate.<\/p>\n
Alport NURTuRE Biobank<\/h4>\n
We are optimistically planning for a national Alport biobank (subject to funding, confirmation expected imminently).<\/p>\n
This will utilise the existing NURTuRE infrastructure which is led by Kidney Research UK and already houses samples from patients with nephrotic syndrome, CKD, and AKI. For more information about NURTuRE, please visit the Nurture website<\/a>.<\/p>\nOnce all approvals are in place we plan to open the study at around 40 hospital sites across the UK, including both adult and paediatric centres.<\/p>\n
We\u2019re aiming to recruit 500 Alport patients over a 12 to 18-month period, from whom we will obtain blood and urine samples, as well as historic and prospective biopsy material.<\/p>\n
Initially, we plan to use these samples to identify early markers of high-risk disease in Alport patients.<\/p>\n
External projects funded via Hub Grant rounds<\/h3>\n2023 Grant round recipient, Kenton Arkill, Glycosaminoglycans and pregnancy<\/h4>\n
Lorna Milne and team at the Nottingham GlycoAnalytics Hub are aiming to understand why the kidney gets leakier during pregnancy in Alports. They have previously focused on the analysis of sugars as these a known to control blood vessel permeability but are now expanding this to take a multi-omic approach. To do this they are generating data sets on the sugar, lipid, metabolite and protein content of the kidney which combined will give us a chemical fingerprint of the kidney to understand how it’s changing in pregnancy, with and without Alport to gain insight into why there’s a significant increase in proteinuria during pregnancy for Alport patients.<\/p>\n
Publications and abstracts<\/h3>\n\n- Rebecca Preston<\/strong>, Anna Hoyle, Alana Stevenson Harris, Emily Williams<\/strong>, Tess Birtles, Joan Chang, Joe Swift, Alexander Eckersley, Rachel Lennon<\/strong>. Ageing impacts extracellular matrix turnover and remodelling in the kidney<\/a>. Matrix Biology Plus.<\/em><\/li>\n
- Oates TM, Barua M, Gear S, Turner AN, Lennon R<\/strong>, Kai H, Gale DP<\/strong>, Aksenova M, Savige J, Gross O, Massella L, Miner JH, Deltas C. Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome<\/a>. Kidney Int Rep.<\/em><\/li>\n<\/ul>\n
Deep Dive \u2013 Alport Research Hub Symposium 2026<\/h3>\n
Our 2026 Hub Symposium took place on Friday 3rd July at the Institute for Child Health at Great Ormond Street.<\/p>\n
This was our largest audience to date, and we attracted some international colleagues, notably Jeff Miner (Professor of medicine in nephrology, WashU) who gave a talk on \u2018Glomerular Basement Membrane Alterations in Alport Syndrome\u2019, and Andr\u00e9 Weinstock (Patient, Scientist, Advocate).<\/p>\n
Other morning highlights included the first talk of the day from Susie Gear (CEO of Alport UK) on \u2018Alport \u2013 a broad clinical spectrum of risk\u2019 and Katie Wong (Clinical Fellow, UKKA) presenting her research on \u2018Quantifying associations of genotype, proteinuria and eGFR with long-term kidney outcomes in Alport Syndrome using data from the UK National Registry of Rare Kidney Diseases (RaDaR)\u2019.<\/p>\n
For the first time we invited abstract submissions \u2013 five of which were selected to present on the day \u2013 and poster presentations, with a prize for the best poster awarded to Konstantinos Tzoumkas (UCL) by Kidney Research UK.<\/p>\n
In the afternoon we heard from our recent grant round receipt Devin Peipert (University of Birmingham) about plans for the development and validation of Patient Reported Outcomes for hearing loss in Alport Syndrome. We then moved on to updates on clinical trials with talks from Bayer, Eloxx, Enyo, and Novartis.<\/p>\n\n\t\t
Image shows the cortical region of a Col4a5-\/Y mouse kidney. The markers are Hoechst (Blue), Cd44 (green), aSMA (yellow), DiD tracer (magenta). The DiD tracer indicates glomeruli that still have size selectivity filtration in this kidney. Interestingly, the glomeruli that are located within the Cd44+ injured region have lost their filtering function, whereas those outside the CD44+ region are still performing some filtration.<\/em><\/p><\/div>\n Richard Naylor has been continuing to characterise theCol4a5-\/Y mouse line to better understand how the disease progresses in this model and to help demonstrate our knowledge of the model for the growing number of commercial collaborators that are approaching the Hub.<\/p>\n This analysis has highlighted a few new things that we didn’t know, here we will focus on findings regarding the CD44-Hyaluronan signalling axis:<\/p>\n In Col4a5-\/Y mice, CD44 is an early marker of epithelial stress, switching on even before other more standard markers such as KIM1. CD44 is a receptor for numerous ligands, but an important one is hyaluronic acid. At very early stages of Alport syndrome in the Col4a5-\/Y mouse, there is production of hyaluronic acid by injured tubule cells, the same cells that are expressing CD44. As the disease progresses there is an accumulation of Cd44-Hyaluronic acid signalling. We have inhibited hyaluronic acid production in cells cultured on a dish and this causes a reduction in expression of genes involved in tissue scarring. Like all chronic kidney diseases, scarring (or fibrosis) is a major contributor to kidney failure and preventing or delaying its progression will likely extend the lifespan of a diseased kidney.<\/p>\n Given the early appearance of CD44 in injured cells, and the profibrotic effects it has, it will be exciting to target this pathway in the next set of experiments and to test if it could be used in addition to ACE inhibitors in the treatment of Alport syndrome.<\/p>\n The results of these findings will be presented as a selected talk at the Kidney Research UK Driving Discoveries 2026 conference on Thursday September 17th.<\/p>\n We are getting ready to commence recruitment to this exciting project.<\/p>\n Potential participants will be identified from the Alport cohort of the RaDaR database. Patients and families will be contacted and informed about the study by the central RaDaR team and if interested, our partner Sano get in touch directly to obtain eConsent and to ship out kits for mouth swab self-testing.<\/p>\n This should help to ensure we are as inclusive as possible by reducing barriers to participation.<\/p>\n The potential long term benefits are a greater understanding of other genes that affect progression and may indicate potential therapeutic strategies.<\/p>\n It is more important than ever to ensure that all patients eligible for inclusion in RaDaR registry are given the opportunity to participate.<\/p>\n We are optimistically planning for a national Alport biobank (subject to funding, confirmation expected imminently).<\/p>\n This will utilise the existing NURTuRE infrastructure which is led by Kidney Research UK and already houses samples from patients with nephrotic syndrome, CKD, and AKI. For more information about NURTuRE, please visit the Nurture website<\/a>.<\/p>\n Once all approvals are in place we plan to open the study at around 40 hospital sites across the UK, including both adult and paediatric centres.<\/p>\n We\u2019re aiming to recruit 500 Alport patients over a 12 to 18-month period, from whom we will obtain blood and urine samples, as well as historic and prospective biopsy material.<\/p>\n Initially, we plan to use these samples to identify early markers of high-risk disease in Alport patients.<\/p>\n Lorna Milne and team at the Nottingham GlycoAnalytics Hub are aiming to understand why the kidney gets leakier during pregnancy in Alports. They have previously focused on the analysis of sugars as these a known to control blood vessel permeability but are now expanding this to take a multi-omic approach. To do this they are generating data sets on the sugar, lipid, metabolite and protein content of the kidney which combined will give us a chemical fingerprint of the kidney to understand how it’s changing in pregnancy, with and without Alport to gain insight into why there’s a significant increase in proteinuria during pregnancy for Alport patients.<\/p>\n Our 2026 Hub Symposium took place on Friday 3rd July at the Institute for Child Health at Great Ormond Street.<\/p>\n This was our largest audience to date, and we attracted some international colleagues, notably Jeff Miner (Professor of medicine in nephrology, WashU) who gave a talk on \u2018Glomerular Basement Membrane Alterations in Alport Syndrome\u2019, and Andr\u00e9 Weinstock (Patient, Scientist, Advocate).<\/p>\n Other morning highlights included the first talk of the day from Susie Gear (CEO of Alport UK) on \u2018Alport \u2013 a broad clinical spectrum of risk\u2019 and Katie Wong (Clinical Fellow, UKKA) presenting her research on \u2018Quantifying associations of genotype, proteinuria and eGFR with long-term kidney outcomes in Alport Syndrome using data from the UK National Registry of Rare Kidney Diseases (RaDaR)\u2019.<\/p>\n For the first time we invited abstract submissions \u2013 five of which were selected to present on the day \u2013 and poster presentations, with a prize for the best poster awarded to Konstantinos Tzoumkas (UCL) by Kidney Research UK.<\/p>\n In the afternoon we heard from our recent grant round receipt Devin Peipert (University of Birmingham) about plans for the development and validation of Patient Reported Outcomes for hearing loss in Alport Syndrome. We then moved on to updates on clinical trials with talks from Bayer, Eloxx, Enyo, and Novartis.<\/p>\n\n\t\tVirtual Hub updates<\/h3>\n
Whole Genome Sequencing (WGS)<\/h4>\n
Alport NURTuRE Biobank<\/h4>\n
External projects funded via Hub Grant rounds<\/h3>\n
2023 Grant round recipient, Kenton Arkill, Glycosaminoglycans and pregnancy<\/h4>\n
Publications and abstracts<\/h3>\n
\n
Deep Dive \u2013 Alport Research Hub Symposium 2026<\/h3>\n