Great opportunity to discuss the hopes and challenges of using #genomics in newborn screening. Fab audience engagement and probing questions. Let’s keeping talking!

Today is the annual Genomics England Research Summit! Caroline Platt and Tracie Miles are on the main stage speaking about implementing the Generation Study - there's still time to catch their session! #GERS2024

A great morning Genomics England #GERS2024 talking about all things UK Translational Genomic Research Fantastic Generation Study session, with Caroline Platt & Tracie Miles discussing the launch of the first recruitment site for newborn genome sequencing Lots to learn & lots of hope

The evaluation of the Genomics England Generation Study investigating Genomic Newborn Screening will provide crucial data to inform potential NHS implementation Celine Lewis introduced us to her groups plan for the independent evaluation ##GERS2024

A real privilege for the ExeterGenomes team to collaborate with Genomics England phenomenal Suzi Walker to find more diagnoses more rapidly for more children affected by rare genetic conditions. #GERS2024 Richard Scott Sarah Wynn Amanda Pichini NHS SW Genomic Medicine Service Alliance Hannah Robinson 🧬☀️

Once in a while you meet a person - that shines bright, that lift others, that is super smart, hard on themselves which pushes them to deliver - I have the privilege of being friends & mentor to Nicky Whiffin - she mentors me right back & she is brilliant theguardian.com/science/articl…

Our team is getting ready to welcome guests to our RARE @ Manchester Event today! Stay tuned to see the excitement, collaboration and talks unfold! Siddharth Banka Dinesh Chawla MFT NHS The University of Manchester NIHR Manchester Biomedical Research Centre

We're thrilled to announce that we've received funding from CIHR to validate C-GUIDE NICU, our measure of #clinicalutility for #genetictesting in the #NICU.🧬👶 Excited to hit the ground running! #SKResearch

A big shout-out to all our speakers today! It's inspiring to hear and connect with so many people who want to improve services, experience and knowledge for our rare disease communities!

Exeter Rare Disease

Congratulations James Fasham, I never had any doubts! Onwards and upwards 👏👏 Royal Devon NHS GW4-CAT HP NIHR Exeter Biomedical Research Centre (BRC)

Exciting news! Our new website is now live! Interested in attending one of our courses or events? Check out our webpage for the latest opportunities! mrcc.org.uk

Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in Nature Genetics - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd

"feeling that like we’ve been on this deserted island for eight years and now all of a sudden, you’re sort of like looking around through the branches of the trees. It’s like, wait a minute, there are other people on this island" ❤️

Exciting results from n-Lorem Foundation Wendy Chung Jennifer Bain MD/PhD (she/her/ella/Dr.) on evidence of clinical benefit from first patient treated with personalized @ASO for KIF1A.ORG #KAND syndrome. Published in Nature Medicine

Exciting oppurtunity to do a PhD in big data and metabolic health with supervisor dream team Caroline Wright Aimee Hanson and Inês Barroso working with the University of Exeter Faculty of Health & Life Sci and University of Bristol in the beautiful south west! Please get in touch and share! gw4biomed.ac.uk/understanding-…

Delighted to be shortlisted for this award, which reflects the wonderful work of our dedicated team, collaborators & the patients & families we are honored to work with. #genomics ExeterGenomes NIHR Exeter Biomedical Research Centre (BRC) KPTN Alliance Peter Crino Sarah Wynn Prof Zornitza Stark Reza Maroofian Professor Dame Sue Hill

Fantastic work as always from Taylor Lab and colleagues!

It was an absolute pleasure to speak about transforming clinical care through rapid genome sequencing in newborns at the annual BAPM conference last week on behalf of ExeterGenomes Exeter Rare Disease 🧬

Thanks for the opportunity to contribute to this work Robert Pitceathly and team