We are proud to be organising the inaugural UCL Renal Genomics Course 5-6 March 2026! (London + Online). Practical genomics for the clinic: test choice, VUS, counselling & real cases across all aspects of rare renal disease. Book 👉 ucl.ac.uk/short-courses/sear…
#genomics #rarerenal
🎙️ A stellar speaker selection including (selected): Emilie Cornec-Le Gall, Albert Ong, Rachel Lennon, Moin Saleem, Detlef Bockenhauer, John Sayer, Neil Turner, Danny Gale + more.
Patient perspectives + small-group cases.
@ecorneclegall @RLWczyk @Moinsaleem @johnasayer
🗓️ Attend 1 or 2 days · In-person or Online. Early-bird rates available. Certificates provided; CPD anticipated. Secure your place: ucl.ac.uk/short-courses/sear…
Great to see this out as well as win the @RoySocMed Stewart Cameron Science Award 2025!
Congratulations to @OAlavijeh for a wonderful presentation and his Raine award #UKKW25!
UCL Renal Genomics retweeted
Raine award winner @OAlavijeh giving a brilliant overview of stellar work on renal genetic risk #ukkw
Congratulations to @OAlavijeh for winning the U.K. Kidney Association Raine Award!
📢 Big news! Dr Omid Sadeghi-Alavijeh @OAlavijeh has won the prestigious Raine Award & will deliver the lecture at UK Kidney Week 2025! His talk will focus on the genetics of inherited kidney diseases, offering key insights from whole-genome sequencing. 🧬 #Genetics #RareDiseases
UCL Renal Genomics retweeted
📢 Big news! Dr Omid Sadeghi-Alavijeh @OAlavijeh has won the prestigious Raine Award & will deliver the lecture at UK Kidney Week 2025! His talk will focus on the genetics of inherited kidney diseases, offering key insights from whole-genome sequencing. 🧬 #Genetics #RareDiseases
Interesting new findings regarding a potential APOL1-HLA interaction from a national unexplained kidney failure cohort:
As always thanks to @RenalGenomics @drmelaniechan @GTDoctor @DannyGale_1 and others for your support, @The_MRC for funding the work, and to the patients and families who have taken part in #100GKP @GenomicsEngland. Link to the pre-print below:
medrxiv.org/content/10.1101/…
Quantifying the effect sizes across the spectrum of variants in cystic kidney disease is out today: shorturl.at/MkZFK
Full thread discussing results below: nitter.cf/OAlavijeh/status/17596…
Great work again @OAlavijeh, supported by @The_MRC @PKDCharity @GenomicsEngland #pkd #adpkd
Cystic kidney disease (#cykd) encompasses #ADPKD #PKD #ARPKD and others. What can we learn about them using national-scale #wgs? In this 🧵we explore our latest preprint from @RenalGenomics:
medrxiv.org/content/10.1101/…
Fantastic work by @OAlavijeh, congratulations!
The primary piece from my PhD on cystic kidney disease is out today in @jclinicalinvest!
jci.org/articles/view/181467
The full thread discussing the paper is linked in the tweet below.
As always many thanks to @The_MRC and @GenomicsEngland, @RenalGenomics and many more!
UCL Renal Genomics retweeted
The primary piece from my PhD on cystic kidney disease is out today in @jclinicalinvest!
jci.org/articles/view/181467
The full thread discussing the paper is linked in the tweet below.
As always many thanks to @The_MRC and @GenomicsEngland, @RenalGenomics and many more!
Exciting work! Do go and see it if you want to learn more about an unbiased genome wide approach to rare disease analysis.
Hyped for my first non-renal specific genetics conference @eshgsociety #eshg2024! Come see our @RenalGenomics groups work #pkd on Monday!
UCL Renal Genomics retweeted
"Bench to bedside" - a term I bandied about as an academic medic, but thanks to this amazing scheme I've had an opportunity to really understand what this means and how porosity between clinical practice, academia and industry is vital to realising this. Long may it continue!
Through our collaboration with @The_MRC we’ve jointly-funded a group of clinical fellows on one-year placement opportunities within our BioPharmaceuticals R&D business. Click here to find out more: bit.ly/3WVBy6X
UCL Renal Genomics retweeted
COL4A3 and COL4A4 pathogenic variants in the normal population: redefining Alport syndrome?
By Judy Savige
✏️@drvt87
#ERA24 #SoMe team
💥Time to change from Alport syndrome to Alport spectrum!!
⚡️ XL- kidney failure in males and 20% of females by the age of 60
⚡️ AR-kidney failure in males and females
⚡️ Digenic Alport syndrome
⚡️ AD-haematuria; kidney failure is uncommon
UCL Renal Genomics retweeted
Excellent focused orals session on genetics in kidney disease.
Bendroflumethiazide, Metformin and beetroot juice all coming to a clinic near you???
#ERA24
@sarah_gleeson_
@NoellaAhn @Violadmb
UCL Renal Genomics retweeted
Cross sectional analysis of @RenalRadar data shows children with rare kidney diseases (across all ethnicities studied) disproportionately live in more deprived areas: evidence of socioeconomic impact of childhood rare kidney diseases on whole families tinyurl.com/28en3jhb
UCL Renal Genomics retweeted
The complexe genetic of CAKUT by @drmelaniechan #ERA24.
Using the 100 000 🧬 project : 4% of diagnosis, mostly HNF1b
Looking for rare variant compared to control : negative
Some answer in polygenic score such as in PUV
CAKUT remain a mysterious genetic story !
UCL Renal Genomics retweeted
Fantastic work @drmelaniechan - I can’t wait to see you answer these mysteries over the next few years!
