Less than 5% of rare diseases have an approved treatment. The @mhragovuk.bsky.social wants to change that, and they want to hear from you. Take part in the Rare Disease Therapies Regulatory Framework consultation before 30 July 2026. Your voice shapes the final framework. 👉 tinyurl.com/4t89v5mc

At the @rdrukhub.bsky.social 3rd Annual Conference, the theme “The Power of Collaboration,” emphasised how partnerships between organisations - @lifearc.bsky.social, @geneticallianceuk.bsky.social, patients and carers, can build a stronger rare disease ecosystem for #RareDisease drug development.

🎉 Our 3rd Annual RDRUK Conference brought researchers, clinicians, patients and policymakers together under one theme: the Power of Collaboration. Big thanks to our speakers, nodes, exhibitors and the CAPTIVATE node! 🙌

Huge congrats to Laura Cristescu & Chris McQuade, winners of the ECR in PPIE 2025-26! 🏆 Shout out to our runners-up and highly commended teams too! In rare disease research, PPIE isn't optional - it's everything. ❤️ Check out the blogs from them tinyurl.com/5n6tpmtt

What does good practice in rare disease PPIE really look like in action? Join us for a conference session on 'Good Practice in Rare Disease PPIE' Register for our annual conference if you haven’t already! tinyurl.com/RDRUKCon26

Don't miss out on the rare disease landscape updates and discussion on how regulatory and policy frameworks shape the journey of rare disease treatments to patients. Register for our annual conference if you haven’t already! tinyurl.com/RDRUKCon26

What does the current rare disease landscape in the UK look like, and where is it heading? Join us for a day of insight and open discussion on the rare disease research landscape and much more! Register for our annual conference if you haven’t already! tinyurl.com/RDRUKCon26

What’s next for rare disease research, and how do we turn promising ideas into real impact for patients? Join us at our annual conference to hear from rare disease researchers, join the conversation, and connect with fellow advocates! Register now tinyurl.com/RDRUKCon26

This #RareDiseaseDay we stand with people living with rare conditions in the UK and beyond, with their families, the people still searching for answers, and everyone who has lost someone along the way. 💜 rd-research.org.uk/node/upnat/

Some nucleic acid therapies are developed for a single patient or very small patient groups 🧬✨, marking a new era of highly personalised rare disease treatment 💜 🎙️Hear from the UPNAT (UK Platform of Nucleic Acid Therapy for rare disease treatment) node rd-research.org.uk/node/upnat/

For many families, the journey to diagnosis can take years ⏳ Earlier and more accurate testing can shorten that path and reduce uncertainty 🧬🔍 🎙️Hear from the Lipidomics and Metabolomics node rd-research.org.uk/node/lipidom...

For many rare conditions, there are no approved treatments 💊 Trials are often the only pathway to new options 🔬 Every study brings us closer to better understanding, better care and, ultimately, better outcomes 💜📈 🎙️Hear from the CAPTIVATE node rd-research.org.uk/node/captiva...

Rare disease research is not just about science 🔬 It’s about partnership - with patients, families, clinicians and researchers working together 🤝💜 🎙️Hear from REOLUT node rd-research.org.uk/node/reolut/

Did you know? Around 80% of rare conditions arise due to changes in a person's genomic makeup, which can be inherited or arise for the first time in an individual. 🧬 🎙️Hear from mTOR node rd-research.org.uk/node/mtor-pa...

The impact of a rare condition often extends far beyond physical health 💙 Education, employment, family life and wellbeing can all be affected. Understanding these wider effects is part of improving care 🧩✨ 🎙️Hear from RDR UK ELSI node rd-research.org.uk/node/elsi/

Rare diseases affect more than 300 million people globally 🌍 There are over 100 epigenetic disorders known, collectively affecting 1 in 500 to 1 in 100 individuals. 🧬🩺 🎙️Hear from EpiGenRare node rd-research.org.uk/node/epigenr...

Rare diseases don’t just affect individuals. They affect families, carers, communities and health systems 💜👨‍👩‍👧‍👦🏥 That’s why rare disease research must be inclusive, collaborative and driven by real-world need 🤝🌍📊 🎙️Hear from the cardiovascular node rd-research.org.uk/node/cardiov...

Most rare diseases are genetic 🧬 Many begin in childhood Families often face years of uncertainty before receiving a diagnosis. That journey can be isolating, exhausting and deeply frustrating 💭 🎙️Hear from our ExPRESS node rd-research.org.uk/node/express/ 📷 pspassociation.bsky.social

Rare Disease Day is just days away💜 Did you know there are over 7,000 known rare diseases? Together, they affect more than 300 million people worldwide 🌍 Rare is not rare when you look at the numbers. 🎙️Hear from our CILIAREN node rd-research.org.uk/node/the-ren...

We’re back for Year Three of the RDR UK Annual Conference! 🎉 We’re delighted to have speakers confirmed from the Office for Life Sciences, LifeArc, Genetic Alliance UK & the RDR UK Nodes and Hub. 👉 Register now tinyurl.com/RDRUKConf26 👀Keep an eye out for updates!

Inclusion by Design shares practical recommendations to tackle structural and cultural barriers to #PPIE in academic research, with input from @rdrukhub.bsky.social and @lifearc.bsky.social Translational Centres for #RareDisease Research. Read the report here: geneticalliance.org.uk/wp-content/u...

📣 We’re getting ready to host our 3rd Annual Conference next year and this time, we’re heading to Birmingham! 📅 16 April 2026 📍 The Birmingham Conference & Events Centre, B5 4EW 💯 Save the date and keep an eye out for more updates!

⏳ Submit your applications soon — just a few days left to apply for the Early Career Researcher Award in PPIE! 📢 Help spread the word by sharing this opportunity with your networks. Find out more and apply 👉 rd-research.org.uk/uncategorize... Deadline: 16 Nov

📣 Only a short time left to apply for the ECR Award in PPIE — an opportunity to highlight early career researchers who are shaping how patients and the public are involved in research. Find out more & apply 👉 rd-research.org.uk/uncategorize... Application deadline: 16 Nov 2025

🏅 There’s less than a month left to apply for the ECR Award in PPIE — a great opportunity to recognise and celebrate early career researchers who are making real impact through patient and public involvement and engagement. 📣 Don’t miss out. Spread the word and share this with your networks!

🌟Our Co-Lead, Victoria Hedley features in the latest Open Access Government issue with an article on advancing rare disease care and cross-border collaboration in research. 🚀Find it in the rare disease section (p.160). tinyurl.com/msue2nwc

✨ Thanks to everyone who took the time to respond to our UK Regulatory Access Survey. We’ve had a great response and the team is now busy analysing the results. 📝 We’re looking forward to sharing the insights soon — watch this space for updates.

@geneticallianceuk.bsky.social has drafted recommendations to tackle structural & cultural barriers to PPIE in rare disease research. We need your feedback! 📝UK-based researchers, PPIE members & rare disease advocates, read the recommendations & complete the survey here 👉 tinyurl.com/PPIEChange

⏰ Reminder: Applications for the Early Career Researcher Award in PPIE close on 16 November 2025. 🧬 If you know someone doing great work, encourage them to apply and help spread the word through your networks!

The Dystonia IMPACT team are recruiting children & young people with dystonia & their parents to take part in interviews to find out what matters most to them. Register your interest: tinyurl.com/DystoniaIMPACT Or contact the team at [email protected]

👉 Have you had a chance to fill out our survey yet? If not, we’d love your input. Please take a few minutes to complete it and don’t forget to share it with your rare disease networks! 📝tinyurl.com/RDRLDproject 🔴 Deadline: 12 September

👉 If you know an early career researcher in rare disease who’s championing meaningful involvement and engagement, encourage them to apply with their PPIE partner! Deadline: 16 Nov 2025

🧩 Are you involved in rare disease research in the UK? RDR UK & @lifearc.bsky.social are building a tool to map the rare disease research landscape — and your input matters! Researchers, patients, families, carers & rare disease advocates — 📝please take the survey tinyurl.com/RDRLDproject

🏆The Early Career Researcher Award in PPIE is back for year two! 🤝Do you know a young researcher who is or has meaningfully and effectively involved your community in their research? Share this opportunity with your networks! Find out more & apply tinyurl.com/ECRaward25

🙏Thank you for all the responses so far! 🟢Deadline extended to 20 August as we are particularly keen to hear from across all four nations of the UK so we can build a truly representative understanding of the challenges and needs across different regions. 🖊️Take the survey tinyurl.com/r-dsurvey

🟢 Deadline extended to 15 August! 🖊️ If you haven’t had a chance to share your experience with UK regulatory pathways in rare disease research, there’s still time! Your insights can help drive change. 📝Take the survey tinyurl.com/r-dsurvey

The RDRUK ELSI Node hosted their first conference earlier this year, bringing together patients, families, researchers, and healthcare professionals in rare disease. 👇Check out their article capturing the voices and priorities shared on the day.

The recent report published by LifeArc and @geneticallianceuk.bsky.social gives several recommendations on how we can #ChangeTheRareFuture and get treatments to people with rare conditions faster. Read it here: t.ly/Ka7qn

Congratulations to Dr Ella Whittle & the UPNAT node for winning the Best Poster Award at the @genomicsengland.bsky.social Research Summit 2025!🎉 👉Take a closer look at their work and poster tinyurl.com/UPNAT

📢 Are you involved in rare disease research in the UK? We want to hear from you! 🔎 Share your experiences with regulatory and market access pathways for rare disease — the good, the bad, and the changes that you would like to see! 📝Take the survey tinyurl.com/r-dsurvey

🚀Check out this recent publication from the mTOR Pathway Diseases node - Challenges and opportunities from bench to bedside and the mTOR node tinyurl.com/mTORnode