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 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
