Rare Disease Research UK

🏅 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!

Open Access Government Open Access Government - Issue 48 October 2025

🌟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 dystoniaimpact@qmul.ac.uk

👉 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

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node - Orphanet Journal of Rare Diseases Mechanistic target of rapamycin (mTOR) is a highly conserved serine/threonine kinase that regulates key cellular processes including cell growth, autophagy and metabolism. Hyperactivation of the mTOR ...

🚀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