Unique very own Sarah Wynn talking about the impact of how we name rare genetic conditions on families at ClinGen and The DECIPHER Project Curating the Clinical Genome Conference in Baltimore. #ccg2024 Genetic Alliance UK Breaking Down Barriers Bill Newman

Busiest day ever yesterday for the South West Genomic Laboratory Hub whole genome sequencing service. 33 cases due on one day, all went out on time. Our excellent WGS team smashing it as usual and providing a great service for our patients and users!

📢New from alistair pagnamenta & colleagues 📰The impact of inversions across 33,924 families with rare disease from a national genome sequencing project #genomes100k cell.com/ajhg/fulltext/…

The sun is shining in Berlin #ESHG2024 🇩🇪☀️ Join the Exeter team at CS17 DNAnexus & NHS - DNAnexus enabling large scale informatics in NHS rapid diagnostic testing 👩‍💻 SUNDAY 12:00 Room: New York 2 #rapidWGS #longreadseq #R14 ExeterGenomes DNAnexus, Inc. Exeter Rare Disease Lucy Mallin South West Genomic Laboratory Hub

#ESHG2024

Thanks to everyone that joined us to hear about the continual improvement to rapid diagnostic genomic services for critically ill children with rare disease - Fantastic and inspiring session Exeter Rare Disease Lucy Mallin 👏 Professor Dame Sue Hill NHS Genomic Medicine Service Oxford Nanopore @exetergenomes DNAnexus, Inc. #ESHG2024

What a fantastic time at #ESHG2024 So many highlights and can't wait to catch up on the parallel sessions I missed! Such a rich source of learning ExeterGenomes

📢 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…

An important update from Rob Taylor, Sian Ellard, and Emma Baple providing the ACGS position statement on rare disease diagnostic genomic testing in the UK and Ireland. #ACGS2024 Taylor Lab Sian Ellard Exeter Rare Disease

Dream team!! 🧬🧬🧬

So exciting!

What better excuse for a cake sale than #Rarechromday 👏 All proceeds going to the fantastic Unique 🥰 What a team of bakers we have! (Minus me 😅) Sarah Wynn ExeterGenomes Exeter Clinical Laboratory NHS SW Genomic Medicine Service Alliance

#Genomic newborn screening challenges are indeed daunting However we do have a responsibility to those affected by rare conditions to cautiously explore the potential Genetic Alliance Sarah Wynn Sian Ellard Richard Scott Daniel MacArthur Siddharth Banka University of Exeter ExeterGenomes

We are delighted to announce the European Society of Human Genetics Syndromology and Dysmophology Course in Manchester - 22nd & 24th October. Interested? Check out our website: mrcc.org.uk/education-enga… Siddharth Banka Sofia Douzgou Houge European Society of Human Genetics (ESHG) ERN-ITHACA

There is still time to apply! Join us in beautiful Exeter to work on finding novel disease genes and gain insights into diabetes mechanisms diabetesgenes Exeter Med School

Revisiting this fantastic video by Exeter Med School 📺 Meet Professor Emma Baple and Hannah Robinson 🧬☀️ and learn more about the pioneering work of our fantastic professionals developing and delivering world-leading #GenomicServices 🧬 #GenomicsConversation Exeter Rare Disease ExeterGenomes South West Genomic Laboratory Hub

🚨 Online now! 📰Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation 🧑‍🤝‍🧑Melissa Gilbert Nancy B. Spinner & colleagues cell.com/ajhg/fulltext/…

Registration is now open for #BSGMConference2024 📍Royal College of Physicians 🗓️5th Nov (🎆) 🗣️Confirmed speakers include: - Stephen Gilbert (TU Dresden) - Rafael J. Yáñez-Muñoz (President BSGCT) - Sian Ellard (University of Exeter, BSGM lecturer) bsgm.org.uk/news/register-…

New episode! Our guests discuss the impact of the research discovery that linked an RNU4-2 gene variant to neurodevelopmental disorders. Naimah Callachand is joined by Lindsay Pearse, Sarah Wynn and Emma Baple 🎙️ Listen via this link: genomicsengland.co.uk/podcasts/how-h… Unique

We are excited to announce the dates & venue for the 20th Manchester Dysmorphology Conference! Date: Sun 16th – Wed 19th November 2025. Venue: Hilton Hotel,Deansgate, Manchester. Check our socials & website(mrcc.org.uk) for updates on the conference Dian Donnai Siddharth Banka