A date for your diaries! Rare chromosome and gene disorder awareness day is next month: Thursday 13th June.

What a fantastic story and an inspirational woman Sian Ellard

Listen to the amazing story of how Sian Ellard set up the Exeter molecular genetics lab from scratch and turned it into a world leading lab 1in6b.com/special-episod… Andrew Hattersley Exeter Med School Royal Devon NHS

My favourite ever explanations of next generation sequencing (NGS) is now available on YouTube 🧬
youtube.com/watch?v=x_Xs5N…

One to bookmark for teaching🔖
Many thanks Matthew Wakeling

#Genomics #Genetics #Bioinformatics

Great opportunities for clinical academic training in Exeter - recruiting now! oriel.nhs.uk/Web/PermaLink/… and oriel.nhs.uk/Web/PermaLink/… Caroline Wright Emma baple Exeter Med School

The countdown is on for this year’s Undiagnosed Children’s Day on Friday 26 April. Please share this post to help more families with undiagnosed children find SWAN UK (syndromes without a name) sooner #UCD2024

Nicky Whiffin Genomics England Amazing work Nicky Whiffin and all involved….I wonder how many we have in our ExeterGenomes cohort 🤔🤔🤔

We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️

If this is you, and your families are interested in meeting others or being part of a community, then please direct them to Unique (@swynn_unique).

👇Recruiting for the #ESHG2024 social media committee

Reply / DM me

Fantastic Flow Design Practical Skills workshop from Royal Devon NHS Transformation for Exeter Genomics Lab 👏 Will be incorporating this learning across the services we offer for patients, building on our culture of #continualqualityimprovement ↗️ ExeterGenomes Exeter Clinical Laboratory South West Genomic Laboratory Hub

Come and join us in wonderful Devon. Lots of fantastic translational research opportunities with the Exeter Med School and NIHR Exeter Biomedical Research Centre (BRC) genomics teams including Caroline Wright, Mike Weedon, Jonathan Mill, Anna Murray, ExeterGenomes Joe Leslie and many others! Don't miss the deadline!

Richly deserved as someone said to be recently 'Zornitza is a rock star', very true!
ExeterGenomes

🎙️New episode! Shaun & Sarah, parents of Joey, and Sarah Wynn, CEO of Unique, discuss Joey's rare genetic condition and how the BBC iPlayer drama 'There She Goes', is bringing rare conditions into the spotlight of mainstream media 🌟

Listen: ow.ly/nyO050R34qZ

📌Meet the #EpiGenRare node! Led by Prof Albert Basson and Prof Siddharth Banka Siddharth Banka, this node will provide epigenomic expertise, access to the state-of-the-art platforms and pipelines for epigenomic analysis, and clinical expertise on epigenetic diseases.
#RareDiseases

Such exciting and important work life changing work Michael Hubank and North Thames Genomic Medicine Service

Absolutely wonderful news for NHS and our patients.
Congratulations Richard Scott and Genomics England. The South West Genomic Laboratory Hub NHS SW Genomic Medicine Service Alliance and ExeterGenomes team are all looking forward to continuing to work together into the future.
Sarah Wynn NIHR Exeter Biomedical Research Centre (BRC)

Please come to work for our fantastic rare disease team in the south west! Opportunities for an ambitious and experienced scientific leader to join our team delivering excellence in NGS/WGS diagnostic services, cardiac, renal and neurological disease.

Looking for a #postdoc in #neuroscience #developmental #neurobiology #epigenetics rare #chromatin disorders #neurodevelopmental disorders? We’re hiring! Come join us in Devon. Please RT!

nature.com/naturecareers/…