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Diana Baralle presenting the findings from RNAseq of 5000 individuals with rare diseases recruited in the 100,000 genomes project. Pioneering work and great prospect for improving the diagnostic rate for individuals with rare diseases!

Starting off our parallel sessions with Matthias Kloor giving an overview of the complexity of Lynch syndrome immunology #CGSCGG2024

Session 2 kicking off with Andrew Beggs outlining the applications of nanopore sequencing #CGSCGG2024

Fantastic presentation from CanGene-CanVar 🧬 students/team from The ICR at #CGSCGG2024: Beth Torr, Charlie Rowlands, Sophie Allen and Lucy Loong all aced it. UK Cancer Genetics Group

Our gorgeous outgoing and incoming chairs #CGSCGG2024

Day 3 of #CGSCGG2024 is all about challenging cases - lots of fascinating stuff presented so far -mosaicism, ultra rare syndromes, atypical/attenuated phenotypes.. lots of headscratching!!

We enjoyed delivering the #CGSCGG2024 conference in Edinburgh last week. Highlights included a bagpipe-led social dinner with ceilidh dance & fantastic speakers UK Cancer Genetics Group, UK Clinical Genetics & VKGN Details of our event delivery service: bit.ly/43RZEjw 📷Katie Snape

Hearing all about the phenomenal activities and achievements of the CanGene-CanVar 🧬 project - quite awesome work! Amazing initiatives led by Clare Turnbull- Prof/NHS Dr and many other stellar individuals - superb collaborative efforts.

Anyone interested? Please do contact us to explore if this could be helpful in your practice. Anju Kulkarni GSTT_SpecAmbulatory UKONS UK Cancer Genetics Group BSGM AGNC European Society of Human Genetics (ESHG)

Prof Sir John Burn is ready with some resistant starch to share with attendees at the ⁦Lynch Syndrome UK⁩ conference today @capp3 #LynchSyndrome

Time to retire “Lynch-like Syndrome”?Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR) ⁦UK Cancer Genetics Group⁩ ⁦Consensus ⁦Terri McVeigh⁩ jmg.bmj.com/content/early/…

Please see our recommendations for MUTYH carrier testing. Some key points: offer testing to partners (any ethnicity) of carriers of biallelic variants and full gene sequencing rather than common variants.

📢 Abstracts are open! Join us at the #BSGMConference2024 at📍the Royal College of Physicians📅on 5th Nov This year’s themes include AI, the power of big data and gene therapies🧬 ⏱️Abstracts close 1st July #Genetics #Genomics #RareDisease bsgm.org.uk/events/bsgm-co…

Hot off the press! The UKCGG CanRisk Consensus Guidelines are live. nature.com/articles/s4141…

Fantastic overview of hereditary predisposition to polyposis by Laura Valle #InSiGHT2024 - further reading in her and Kevin Monahan review: pubmed.ncbi.nlm.nih.gov/37931640/

NEW! Management guidelines for carriers of pathogenic variants in MET are now live on the UKCGG website. ukcgg.org/information-ed…

New! One page management summary for VHL is now live on the UKCGG website. ukcgg.org/information-ed…

Join us for the 2024 Winter virtual meeting on 5th and 6th December. It’s a steal at £20 for UKCGG members! ukcgg.org/events/uk-canc…