This beautiful drawing highlights what will be a wonderful evening celebrating science and a new gene discovery which has made such a difference to so many rare 🧬 families. @uniquecharity.bsky.social
Last week was the first #ReNUhopeConference
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
📢 We're Hiring – Engagement & Communications Officer! 🌟
To apply and find out more click here: bit.ly/Uniquejob
Join us in making a difference!
#Hiring #CommunicationsOfficer #CharityJobs #RareDisorders
Honoured to be included in this little gang! 🧬❤️ 🙏 Looking forward to you joining us next year at #ESHG2026!
Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.
We were delighted to share this wonderful collaboration with the Julia Garnham Centre (JGC), Sheffield Children's NHS Foundation Trust and The University of Sheffield, aimed at increasing the number of Unique guides.
Find them on our Disorder Guides page: rarechromo.org/disorder-gui...
A wonderful story of how 🧬 research can provide hope & answers to families affected by rare conditions. Enormous thanks to @nickywhiffin.bsky.social, Yuyang Chen & others whose work is dedicated to finding these answers for @uniquecharity.bsky.social families.
We are calling clinicians to propose rare genetic neurodevelopmental disorders, which they will be willing to lead development of a new guide, with assistance of our generative AI model.
Propose a condition by 30th May:
forms.office.com/e/j...
Sarah Wynn
Sarah Wynn
Nicky Whiffin
Nicky Whiffin
Sarah Wynn
James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
We are delighted to be hosting an evening of talks about the discovery of ReNU syndrome, at 17:30 on Tuesday 29th April at St Anne's College. Further information, and registration details can be found here: cpm.ox.ac.uk/event/the-di...
We hope to see you there!
A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
🖼️ P25.064.D They're here!
New approach to creating high-quality patient information at scale.
Sheffield & Unique working with students, clinicians, families & AI
Develop expert-reviewed guides for rare genetic conditions.
#ESHG2026
📖 rarechromo.org/disorder-gui...
We must recognise and protect the pipelines that lead from research to real-world benefit
James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...
Great picture from #ESHG2025 of three of my favorite UK superwomen of #Genomics
Unique's @sarahlwynn.bsky.social, @genomicsengland.bsky.social Suzi Walker and @neygenomics.bsky.social Miranda Durkie
