🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Final talk in the “Big data and AI” session #BSGM2024 Prof Pagnamenta alistair pagnamenta University of Exeter expertly sharing examples where several new #rare diagnoses were made by searching haploinsufficient genes for inversions, complemented with RNAseq assessments 👏

Superb finale to #BSGM2024! Sian Ellard sharing inspiring stories from an impressive career dedicated to advancing #Genomics, championing multidisciplinary best practice, education and training BSGM ACGS #ExeterDiabetes 👏

At #ASHG24 #ASHG2024 and interested in non-coding variants in rare disease? I am speaking in the session "How do we describe and ascribe clinical significance to the non-coding genome?" bright and early tomorrow morning 🧬

🎓 Thinking About a Career Change in Genetic Counselling? Our webinar on November 14 is a must-attend! Learn about the diverse pathways within this rewarding field and get your questions answered by seasoned professionals. #GCADWebinar #ANZGeneticCounsellors

Congratulations Kash 🎊

Phenomenal achievement @rbamford5 👏 👏👏

"Equitable access to timely genomic testing for people affected by rare diseases is essential..." Our CEO Sarah Wynn together with Sian Ellard Exeter Rare Disease Taylor Lab wrote for PET : progress.org.uk/rare-disease-g…

🚨Job alert Closing date arriving soon (2nd Dec 2024) Manchester Rare Conditions Centre Research Fellow mft.nhs.uk/careers/search… Manchester Rare Conditions Centre MFT Research and Innovation Evolution, Infection and Genomics (EIG) UoM EpiGenRare - Rare Disease Research UK REOLUT - Rare Disease Research UK Rare Disease Research UK Exeter Rare Disease Manchester Epilepsy Research Network NHS Genomics Rare and Inherited Disease Network of Excellence

So pleased to be here at the #THEAwards24 celebrating the work we have been privileged to do with the Amish communities aiming to reduce genomic healthcare inequalities for families affected by #raredisease

So pleased to be here with the North Thames Genomic Medicine Service team at the #THEAwards24 celebrating the power of Genomic Medicine to change lives k NHS Genomic Medicine Service Unique Genomics England

Agh clearly I meant NWGMSA! Let's just say the wine is flowing.....sorry Manchester team 🤣

And Bill Newman and John McDermott are the winners. All is fair in love and xxxx. Well done Manchester Rare Conditions Centre NWGMSA really pleased for you 👏👏

"We should absolutely aim to lead the world.  But we must also ensure we aren’t leaving behind any of our own patients. That was a central commitment of the Accelerating Genomic Medicine strategy." Amanda Pritchard NHS England tells #NHSGenomics2024 in her opening speech

Baroness Merron (Department of Health and Social Care Minister responsible for #genomics) meets with colleagues across the @nhsgms including chief execs, clinicians, patient reps and stakeholders at #NHSGenomics2024

Come & join us as a Consultant in the exciting new South West Clinical Genetics Service, supported by the phenomenal South West Genomic Laboratory Hub Exceptional opportunities to develop specialist clinics and academic interests all in a beautiful part of the world. Sarah Wynn NIHR Exeter Biomedical Research Centre (BRC) ExeterGenomes

As we approach the year's end, I want to say a heartfelt thanks to the NHS healthcare science community and I hope you can take a break over the festive period. Please know that your contributions are deeply valued and we look forward to 2025 being another groundbreaking year.

👀 our advert is also in the Christmas BMJ (see my previous post or DM me for details)

ExeterGenomes are celebrating!! The team in Exeter have been delivering diagnoses for children with rare genetic diseases since 2013. Initially as exomes, now thriving as a national rapid genome sequencing service (R14). We've just passed our 9000th family 😮🎉🥳 South West Genomic Laboratory Hub

This will improve diagnosis & treatment for thousands of patients 🌍 👏🏼 Amazing Adam Jackson 👍🏼 Nishi Thaker Alex Blakes 🙏🏼all collaborators Manchester Rare Conditions Centre MFT Research and Innovation NIHR Manchester Biomedical Research Centre Evolution, Infection and Genomics (EIG) UoM UoM Biology, Medicine and Health EpiGenRare - Rare Disease Research UK Rare Disease Research UK Unique nature.com/articles/s4158… 🧬