See what the community has been up to so far this year, and come away inspired to share your accomplishments at the in-person Cambridge Rare Disease Showcase this July.
Remember: You have until 6 June to submit your lightning talk proposal!
Incredible progress has already been made in 2022 by the following rare stakeholders:
Patient Groups
- The launch of new patient registries for Poland Syndrome, NCBRS, BHD Syndrome, mitochondrial disease, Type 2 and 3 Gaucher Disease and Schinzel-Giedion Syndrome
- The release of Shining a Light on Rare Conditions with Genetic Alliance UK and ITN Productions Industry News
- Timothy Syndrome Alliance (TSA) winning the Gold Film Awards at the Charity Film Awards by Smiley News for their short film ‘Rare Strikes Back’
- Medics4RareDiseases (M4RD) collaboration with Bionical Emas on a new online training for healthcare professionals that provides essential education on clinical trials and early access programmes in the context of rare diseases
- Duchenne UK wins £1.25m award through People’s Postcode Lottery Dream Fund for revolutionary mobility suit in partnership with Spinal Muscular Atrophy UK and Liverpool University
- And more!
Healthcare Professionals
- The release of England’s Rare Disease Action Plan
- The rise of Whole Genome Sequencing (WGS) and newborn screening
- The Western Australia Department of Health opening a new Rare Care Centre in Perth
- Genetic Alliance UK’s ‘Good Diagnosis’ report
- Costello Medical’s ‘Improving Transition’ report
- And more!
Industry
- PTC Therapeutics’ #DuchenneCAN campaign
- BioMarin Pharmaceutical Inc’s #MyRareLife campaign
- Acadia Pharmaceuticals Inc. and Stoke Therapeutics teaming up to find treatments for SYNGAP1 syndrome and Rett syndrome (MECP2) in a $900M+ deal
- Alexion Pharmaceutical’s ‘Reforming Rare Diseases: Making the Rare Path the Right One’ video
- Kyowa Kirin‘s ‘Shine a Light on XLH’ campaign
- Costello Medical’s ‘Improving Transition’ report
- And more!
Researchers and Academics
- Kidney Research UK and the Stoneygate Trust opening a new Manchester-based research programme that’s dedicated to the study and treatment of Alport Syndrome
- Duchenne UK launching a new DMD Hub to be a centrally coordinated national recruitment database to make research more accessible to all
- The AllStripes cystinosis research program and PROS research program
- Sarah Evans, assistant professor in the Department of Information Science, leading a study that requires participants to create graphic novels to portray their medical experiences to improve health literacy
- And more!
Ready to share your accomplishments?
Submit your lightning talk proposal before 6 June!
You must register for our showcase to submit a lightning talk proposal. During the registration process, you’ll be invited to indicate your interest in speaking and provide a short summary of your talk.
Pro tip: A good lightning talk condenses a couple of ideas and inspires the audience to search for more information. Watch the lighting talks from The International Rare Disease Showcase to see how it’s done and learn how you can #BeatTheBell!
Good luck!