Danny Gale

Awesome work by @zornitza.bsky.social and collaborators showing the immediate value of WGS for newborn screening in a cohort of 1,000 Australian babies. Now we need larger, more diverse cohorts to show this approach can achieve population scale!

If you’re interested in learning about all things genetic in nephrology, come to our Renal Genomics course in London, 5-6 March 2026!

Fellowships - International Society of Nephrology %

Int Society of Nephrology Glomerular Disease fellowships! Our program is not on the small ISN list but can host ISN fellows. We offer glomerular disease clinics, vasculitis clinics, genetics clinics, onconeph clinics and research opportunities. DM if interested!
www.theisn.org/in-action/gr...

Collagen IV in Gould syndrome and Alport syndrome Nature Reviews Nephrology - In this Review, the authors focus on the role of collagen IV in Gould syndrome and Alport syndrome. They discuss the molecular and phenotypic similarities and...

Thrilled to have this finally published! If you are interested in learning about the collagen IV diseases Gould syndrome and Alport syndrome, add this to your reading list. www.nature.com/articles/s41...

FDA Approves Pegcetacoplan for C3G and IC-MPGN | Docwire News The FDA approved pegcetacoplan for treating C3 glomerulopathy (C3G) and primary immune complex membranoproliferative glomerulonephritis (IC-MPGN in patients age 12 and older.

⚠️ The FDA has approved pegcetacoplan (Empaveli) for treating C3G and IC-MPGN. #kidneydisease #nephrology #nephsky #c3g www.docwirenews.com/post/fda-app...

The Alport Workshop in Beijing in September is looking tremendous! Agenda to be added soon, but register now at tinyurl.com/5674vckz @alportuk.bsky.social @dannygale.bsky.social @rheaultm.bsky.social @rachellennon.bsky.social‬

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Proteinuria Trajectory and Disease Progression in Children and Adults with IgA Nephropathy/Vasculitis
https://pubmed.ncbi.nlm.nih.gov/40208688

Treatment of patients with IgA nephropathy: a call for a new paradigm

doi.org/10.1016/j.kint.2025.01.014

#KIReview #OpenAccess #MedSky #NephSky #IgAN #IgAnephropathy

Using implementation science to navigate the complexity of integrating genomics into healthcare Nature Medicine - Australian Genomics led a country-level, longitudinal project to deliver and evaluate the impact of genomics in routine healthcare.

As @ausgenomics.bsky.social comes to an end: what have we learned? 🇦🇺🧬 @naturemedicine.bsky.social
👉 rdcu.be/eeuAN
Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levels🏆
@stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social

Senior Statistician Are you an experienced statistician with the expertise to work independently and lead impactful research? Do you want to apply your skills to shape cr

Statistician wanted! The UK National Registry of Rare Kidney Diseases (RaDaR) is looking for a statistician to join our team using patient data to unlock improvements in care for people with rare kidney diseases. If you are interested click here shortlink.is/fzNsRD or message me.

Prospective Cohort Study in Alport Syndrome Patients under Standard Therapy Patients with Alport syndrome, a common genetic kidney disease, exhibit variable rates of decline in kidney function. Consequently, this global, multicenter, prospective observational study aimed to g...

Prospective Cohort Study in #Alport Syndrome Patients under Standard Therapy - the ATHENA study www.kireports.org/article/S246...

#NephMadness 2025: Minimal Change Disease Region Submit your picks! | @NephMadness | @nephmadness.bsky.social | NephMadness 2025 Selection Committee Member: Susan Samuel @drsusansamuel Susan Samuel is a Clinician Scientist and Pediatric Nephrolog…

#NephMadness 2025: Minimal Change Disease Region

buff.ly/qk4LG8w

Teams:
- MCD Diagnosis and Pathogenesis
- MCD Relapse

Expert: Susan Samuel
Writers: Mallory Downie & Robert Myette
Execs: Ana Catalina Alvarez-Elías & @nephrosparks.bsky.social

Globally, 150+ rare kidney diseases affect 60–80 people per 100,000. Many are hereditary, with inherited kidney disease seen in 10% of adults & most children on #KRT. Yet, barriers to diagnosis & treatment persist, especially in LMICs. On #RareDiseaseDay, we call for action! #KidneyHealthMatters

Somehow missed this excellent VA of the RaDaR study that has changed hearts and minds in IgA Nephropathy, breaking the sound barrier of 1g/day of proteinuria as are standard for high risk of progression

Exciting progress in Alport research! 🎉 The Alport Research Hub, led by Prof. Rachel Lennon, is uniting experts and patients to improve diagnosis, treatment & care.

Watch the video to learn all about The Alport Research Hub

@rachellennon.bsky.social
@kidneyresearchuk.org

Sorry to hear this Simone. Please persist.

Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted a multiancestry genome-wide association study in 2.2 million individuals and...

🎇Our new paper in @ScienceMagazine
: Kidney Multiome-Based Genetic Scorecard Reveals Convergent Coding and Regulatory Variants.
@Hongbo919Liu science.org/doi/10.1126/...

Genotype-First Analysis in an Unselected Health... : Journal of the American Society of Nephrology udy, an unselected health system-based cohort with exome sequencing and electronic health records. Patients with COL4A5 variants reported as pathogenic or likely pathogenic in ClinVar, or protein-trun...

Genotype-First Analysis in an Unselected Health System–Based Population and Phenotypic Severity of COL4A5 Variants.

tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...

Kidney Compass: PARASOL Background and FSGS Landscape In part 2 of 4 from this episode, the discussion focuses on the groundbreaking work of the RADAR Registry and the PARASOL Initiative.

The PARASOL initiative started after the DUPLEX trial results were presented by @rheaultm.bsky.social in 2023

On #kidneycompass, Laura Mariani shares how remarkable progress can be possible in a short time when groups work together towards a common goal #FSGS

www.hcplive.com/view/kidney-...

Composition of the neutralising antibody response predicts risk of BK virus DNAaemia in recipients of kidney transplants BKV nAb mismatch predicts post-transplant BKV DNAaemia. Specific mismatches in nAb, rather than total seroreactivity, are key indicators of BKV risk post-transplant. This has the potential to risk-str...

Congratulations Steph Chong and colleagues at UCL renal on this important work.

www.thelancet.com/journals/ebi...

a couple of cartoon characters standing next to each other with one wearing a purple earring Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring

📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣

Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...