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...

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 💙

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.

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 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...

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

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.

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

Nominate Unique as your company's Charity of the Year! 💛 Pictured is member Kat Shaw and her pals from Accenture celebrating fundraising for Unique this year in their Lake District Challenge. Get in touch to learn more about partnering with us! Just email [email protected]

In my quest to spread awareness of #rareconditions 🧬 as far and wide as possible, I visited @10dowingstreet.bsky.social yesterday. While I didn’t get to meet the Prime Minister, I did get to spend time with Larry @number10cat.bsky.social!