Rare Disease Research UK
@rdrukhub.bsky.social
We hope to be able to significantly impact the RD research landscape and improve the lives of those directly or indirectly affected by rare diseases.
⏳ 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
📢 Help spread the word by sharing this opportunity with your networks.
Find out more and apply 👉 rd-research.org.uk/uncategorize...
Deadline: 16 Nov
November 12, 2025 at 9:40 AM
⏳ 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
📢 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
Find out more & apply 👉 rd-research.org.uk/uncategorize...
Application deadline: 16 Nov 2025
November 5, 2025 at 2:19 PM
📣 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
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!
📣 Don’t miss out. Spread the word and share this with your networks!
🏆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
🤝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
October 17, 2025 at 12:25 PM
🏅 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!
📣 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
🚀Find it in the rare disease section (p.160).
tinyurl.com/msue2nwc
Open Access Government
Open Access Government - Issue 48 October 2025
tinyurl.com
October 13, 2025 at 10:13 AM
🌟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
🚀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.
📝 We’re looking forward to sharing the insights soon — watch this space for updates.
October 6, 2025 at 8:48 AM
✨ 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.
📝 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
📝UK-based researchers, PPIE members & rare disease advocates, read the recommendations & complete the survey here 👉 tinyurl.com/PPIEChange
October 3, 2025 at 9:51 AM
@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
📝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!
🧬 If you know someone doing great work, encourage them to apply and help spread the word through your networks!
🏆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
🤝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
September 26, 2025 at 4:30 PM
⏰ 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!
🧬 If you know someone doing great work, encourage them to apply and help spread the word through your networks!
Reposted by Rare Disease Research UK
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
Register your interest: tinyurl.com/DystoniaIMPACT
Or contact the team at dystoniaimpact@qmul.ac.uk
July 15, 2025 at 11:47 AM
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
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
📝tinyurl.com/RDRLDproject
🔴 Deadline: 12 September
🧩 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
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
September 1, 2025 at 1:58 PM
👉 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
📝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
Deadline: 16 Nov 2025
🏆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
🤝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
September 1, 2025 at 1:43 PM
👉 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
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
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
August 20, 2025 at 8:38 AM
🧩 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
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
🤝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
August 18, 2025 at 8:46 AM
🏆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
🤝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 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
📢 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
🔎 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
August 14, 2025 at 9:15 AM
🙏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 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
🖊️ 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
📢 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
🔎 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
August 5, 2025 at 7:30 AM
🟢 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
🖊️ 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.
👇Check out their article capturing the voices and priorities shared on the day.
Article summarising the the key themes identified at the ELSI Conference which look place earlier this year. Highlighting a range of different priorities and challenges of rare condition clinical trials.
A Day of Discussion: The ELSI Conference 2025
Authors: Emily Clarke, Tara Clancy, Amy Hunter, Faye Johnson, Simon Jones, Sinduja Manohar, Gracie Mellalieu, Yvette Mellalieu, Melissa McKie, Arti Patel, Peter Style, Shelley Wagon, Sarah Wynn Introd...
www.linkedin.com
July 31, 2025 at 2:22 PM
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.
👇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
Read it here: t.ly/Ka7qn
July 8, 2025 at 8:38 AM
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
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
👉Take a closer look at their work and poster tinyurl.com/UPNAT
July 2, 2025 at 1:22 PM
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
👉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
🔎 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
June 23, 2025 at 11:55 AM
📢 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
🔎 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
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 ...
tinyurl.com
May 27, 2025 at 10:15 AM
🚀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