Renal Stone Disease Webinar: Case-Based Discussions This UKKA Renal SpR Club hosted educational webinar for renal registrars will feature John Sayer as the expert guest speaker.

🩺 Renal Stone Disease Webinar
📅 18 Nov | FREE | Online

Join Prof John Sayer & the UK Specialty Renal Trainees for interactive cases to sharpen your renal diagnostic skills.

Perfect prep for the ESENeph on 26 Nov!

👉 Register now:

#kidneyweek American Society of Nephrology Houston taking about genetic therapies for renal ciliopathies

Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease Chronic kidney disease (CKD) affects approximately 9% of the global population, leading to increased risks of end-stage kidney disease (ESKD), cardiov…

www.sciencedirect.com/science/arti...

Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease Chronic kidney disease (CKD) affects approximately 9% of the global population, leading to increased risks of end-stage kidney disease (ESKD), cardiov…

www.sciencedirect.com/science/arti...

Link:
authors.elsevier.com/a/1lPsezcYo6...

Finding the correct diagnosis is so important in kidney disease to allow for targeted treatment and avoid harm. And it’s equally important to openly address if the cause is not known. This is:
CKD of unexplained cause (CKDx)

Proud to have contributed to our ERA Genes&Kidney working group consensus statement on CKDx (X for unexplained cause) published in #NDT.

Transparent classification is of great benefits for patients and accelerates research !

academic.oup.com/ndt/advance-...

Taking about aso mediated exon skipping as a means of kidney gene editing @nckrf.bsky.social @kidneyresearchuk.org @cilialab.bsky.social

Currently working at Boston Children’s Hospital- exploring genetic therapies for inherited kidney diseases with support from @nckrf.bsky.social

News — CILIAREN

@rarediseasesint.bsky.social

www.ciliaren.org/news

How Newcastle experts are advancing rare disease research Discover how Newcastle University is driving rare disease research, advancing treatments, and improving care. On Rare Disease Day and beyond.

from.ncl.ac.uk/newcastle-ra...

Nephrectomy in Autosomal Dominant Polycystic Kidney Disease: A consensus statement of the ERA Genes & Kidney Working Group - PubMed A substantial number of patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) undergo a nephrectomy, especially in work-up for a kidney transplantation. Currently, there is no evidence-ba...

pubmed.ncbi.nlm.nih.gov/39848914/

www.ajkd.org/article/S027...
Great new article

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recess... A tailored copy-number variations analysis of genome sequencing trio data shows that biallelic inherited gene deletions are rare, with <i>NPHP1</i> biallelic deletions causing nephronophthisis the lea...

pubmed.ncbi.nlm.nih.gov/39669628/

Save the date! We are excited to announce that our Celebration of Research Excellence: Community Event 2025 is inviting you to learn about world leading research into ageing and multiple long-term conditions.

Wednesday 26 March 2025, 11am – 2.30pm

🔗 www.newcastlebrc.nihr.ac.uk/celebration-...