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We were honoured to meet HRH the Princess Royal when she came to open the new MRC Laboratory of Medical Sciences (LMS) building. Juanma Vaquerizas and clinical postdoc Melanie Chan spoke about some of the work the lab is doing on #3Dgenome structure #development and #epigenomics Medical Research Council Imperial Medicine

Exciting work culminating from a productive PhD using unbiased genome wide methodologies to look at cystic kidney disease #ADPKD #PKD #cykd

Beating #KidneyFailure needs #RareDisease cures. @RenalRaDaR data out today reveals a staggering 28x higher 5-year kidney failure risk in 28k people with #RareKidney diseases c/w 2.8 million with #CKD. Trajectories in 28 diseases included for reference tinyurl.com/yvybsvx2

Great to see Prof Danny Gale et al tell us what happened to the kidney function of patients with #Alport & TBMN who were in RaDaR This work will help those living with Alport understand more about what might happen to them in the future #AlportWorkshop thelancet.com/journals/lance…

Fantastic work by group members Katie Wong and David Pitcher working at RaDaR, with many others in the U.K. renal community. Outcomes for 27285 patients in 28 rare disease group, showing outsize contribution to prevalence of endstage kidney disease tinyurl.com/yvybsvx2

Congrats to Lavine Liu for being the best PHD poster presenter at the UCL division of medicine retreat 2024 UCL Faculty of Medical Sciences !

Cross sectional analysis of RaDaR 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

Excellent focused orals session on genetics in kidney disease. Bendroflumethiazide, Metformin and beetroot juice all coming to a clinic near you??? #ERA24 @sarah_gleeson_ Noella Ahn Viola D'Ambrosio

The complexe genetic of CAKUT by Melanie Chan #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 !

COL4A3 and COL4A4 pathogenic variants in the normal population: redefining Alport syndrome? By Judy Savige ✏️Vaibhav Tiwari #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

Stunning presentation by Melanie Chan on WGS in CAKUT. #era2024

Fantastic work Melanie Chan - I can’t wait to see you answer these mysteries over the next few years!

"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!

Exciting work! Do go and see it if you want to learn more about an unbiased genome wide approach to rare disease analysis.

The primary piece from my PhD on cystic kidney disease is out today in Journal of Clinical Investigation! jci.org/articles/view/… The full thread discussing the paper is linked in the tweet below. As always many thanks to Medical Research Council and Genomics England, UCL Renal Genomics and many more!

Fantastic work by Omid S. Alavijeh, congratulations!

Quantifying the effect sizes across the spectrum of variants in cystic kidney disease is out today: shorturl.at/MkZFK Full thread discussing results below: x.com/OAlavijeh/stat… Great work again Omid S. Alavijeh, supported by Medical Research Council PKD Charity UK Genomics England #pkd #adpkd

Interesting new findings regarding a potential APOL1-HLA interaction from a national unexplained kidney failure cohort:

📢 Big news! Dr Omid Sadeghi-Alavijeh Omid S. Alavijeh 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

Congratulations to Omid S. Alavijeh for winning the U.K. Kidney Association Raine Award!