Reflecting on Rare Disease Day 2025

There was an incredible range of displays about many different conditions, and all the researchers were so lively and helpful when explaining their research through various activities. It was all very engaging and I'm so glad I was able to learn about a lot about rare diseases that are currently being researched.

One team used a DIY kidney model to explain rare kidney diseases, another used brain models and quizzes to present their research on the pituitary gland.

A stall that stood out to me was a presentation on a rare form of cancer, researched using different cells and treatments which the researcher presented to me using a collection of connector building blocks - I loved the simplicity of it to explain a complex research process!

I used a VR headset to look inside a virtual 3D model of a heart! This research project uses amazing virtual reality technology to create 3D models of hearts, normal or specific to a certain condition or patient, which allows them to be explored internally straight from a seat. It was so fun seeing so many kids try the VR themselves and look around in awe. Being able to do it myself was so fun and also informative, as I tested myself to point out all the different chambers and parts of the heart. This tech will be used by doctors and patients to get a better view of the heart itself for treatments and research in the future.

I loved making bracelets of different animals DNA sequences for research about DNA - I got to make a green and pink bracelet with the DNA sequence of a firefly!

There was also a chatbot being developed to help parents and patients answer their worries about their condition.

Table top hands on research & innovation engagement activities

• ‘Paint your own take away 3D printed neural tube’: understand how the brain develops and what causes spina bifida.
• Keto-Start’: make your own ’keto’ bracelet or build your own ‘keto’ meal, learn how research has brought patients, families and healthcare professionals together to help children with epilepsy on a ketogenic diet.
• ‘VheaRts’: try on a headset, as we guide you on a journey through the heart. Learn about research into rare cardiovascular disease as we show you 3D models of the heart.
• ‘Pituitary Picture Puzzle & Pipetting’: learn about the pituitary gland and meet the researchers finding spelling mistakes in people’s genomes.
• ‘Can you filter like a kidney?’: learn how kidney filtration works and meet a researcher looking into how we can help when this filtration goes wrong.
• Challenge our Chatbot': ask questions to help support your care and help researchers think how thi technology can move from paediatric rheumatology to other health conditions.
• Biobanks’: play a game of DNA Top Trumps & find out how genomic sequencing is transforming rare disease care in the NHS. Make your own gene sequence bracelet.
• ‘Hook-a-data-duck’: and learn how we keep patient data safe during research.
• 'Giving cancer drugs superpowers': Hear how retinoic acid is used to treat neuroblastoma patients and how we plan to 'supercharge' it with DNA nanotechnology. See how it works with our hands-on demo, then build a nanoparticle yourself.
• Children’s Cancer Centre Information Stall: find out how it’s all progressing.
  
  Mini Laboratory
• ‘Spot the cell’: look down a microscope and learn the difference between healthy and not so healthy cells.
• ‘Bubble Baby Disease’: watch a slide show on how your body defends itself against diseases, handle our toy models of Immune cells, and learn how we help treat Bubble Baby Disease with gene therapy or bone marrow transplant.
• ‘Take your turn at being a rare disease healthcare scientist!: watch and learn chromatography and electrophoresis in action. Make a diagnosis by matching the disease with the chromatogram or gel electrophoresis.

• GOSH Arts Hang Drum player
• GOSH Volunteers and therapy dog Jeff and his pal.
• Four GOSH YPAG members who supported researchers with their activities and had a tour of the GOSH Clinical Research Facility (CRF)

As someone who used to be a patient at the old NIHR GOSH CRF, it was amazing to see how fresh and sleek the galactic and space themed new facility is (although I am a bit jealous!). I loved the central play area that is nice and open with windows to brighten the place, as well as the amazing array of toys for all the kids to enjoy. It was lovely to see how comforting the space is, even with a parent's lounge for people to relax. It truly felt like stepping into a spaceship and experiencing another world. I'm positive it will remain a comforting space for the patients who are staying there.

As someone with a rare disease, it was comforting knowing how much effort is being put into the treatments of rare diseases and how incredibly insightful the event was. With a big turnout, it's nice knowing how much awareness was raised around rare diseases through this event!

As a GOSH YPAG member, I have always loved talking and learning about research and hopefully we can get involved with some of these projects in the future. It inspires great hope in me for the treatment and discovery of various rare diseases in the future, and I am so glad to have attended. Thank you so much to everyone who made the Rare Disease Day event possible!