Adult SMA Reach Project Manager, Sonia Segovia, gives a presentation on data collection and use from this important international study
ICGNMD UCL_QS_CNMD

For more info:
adultsmareach.co.uk

UpLift INFORM IRL - PA & Gender Identity Film Premier

📆 Tuesday 16th April
⌚ 11:00 - 15:00
📍 Star and Shadow Cinema in Newcastle
💷 FREE - lunch included
📝 Sign up - tinyurl.com/2tyjs9c4

Premiering animations created from ideas in the filmmaking workshop held in August.

My #IDMC14 poster 'The UK Myotonic Dystrophy Patient Registry - Empowering Clinical Research and Patient Voice with an Effective Translational Research Tool' is now available to view on the registry website:
dm-registry.org.uk/media/images/D…

I am presenting this poster today at the IDMC congress in Nijmegen. This is an international collaborative study to understand the burden of patients with Myotonic Dystrophy type I. JWMDRC

Poster presentation time! Come and have a chat about how the UK DM Registry can support #MyotonicDystrophy research and learn about our exciting development plans! #IDMC14

🔬 Want to kickstart a research project on your #raredisease ? The #Share4Rare 4th 𝗖𝗮𝗹𝗹𝟰𝗣𝗿𝗼𝗷𝗲𝗰𝘁𝘀 is here to help you and your organisation make it happen.

More information here 👉 share4rare.org/news/4th-share…

Send your proposal before July 15th!

The Global Registry for COL6-related Dystrophies spring newsletter is out: sway.cloud.microsoft/FUbIpUDswtbR1R…

See updates from the registry and a review of some of the research going on in the COL6-RDs.

Calling patient group leaders! 📢

Beacon is looking to team up with Genetic Alliance UK to design specialised training for rare disease patient groups.

With a general election coming up, would you be interested in free policy, advocacy and campaign training?

Lovely to meet new Peter trustee Wendy at #IDMC14 ! The UK #MyotonicDystrophy patient registry supported recruitment to their recent survey; it's great to see the results of this important work being presented to the global research community 🌍

Fantastic to see a variety of posters at #IDMC14 showcasing #MyotonicDystrophy research studies supported by the UK DM Registry! Get in touch or visit bit.ly/dmenquiry to learn how we can provide data reports and link researchers with patients to help further research.

Excellent talk from AnnemiekeAartsma-Rus on lessons the #MyotonicDystrophy research community can learn from DMD, including the importance of natural history and patient data. See how UK DM Patient Registry can support this goal by viewing poster 54, or get in touch for a chat 🧬 #IDMC14

On my way to IDMC-14, looking forward to an an interesting conference and to catch up with colleagues. See you soon! 👋

UK #MyotonicDystrophy Patient Registry Participants should have received an email last week inviting you to participate in a survey for Peter. If you don't see the email in your inbox, pls check your junk folder then contact [email protected] 💻

Check out the latest issue of the FSHD Advocate! Our spring issue is all about ways you can take action right now to improve your well-being. You can read it online here: bit.ly/3OrznDD

It’s Neurodiversity Celebration Week.

#Neurodiversity CelebrationWeek #Neurodiversity #Neurodiverse

It's #NeurodiversityCelebrationWeek 🎉

Join us in celebrating the fact that Great Minds Don't Think Alike!

Every brain is unique and has a way of #ThinkingDifferently .

#GreatMinds #NeurodiversityWeek #NCW #ThisisND

Solid Biosciences & Armatus Bio announced they are teaming up to develop a new treatment for FSHD! Using Solid's AAV-SLB101 tech, aimed at better muscle targeting, & Armatus' therapy candidate, ARM-201, they hope to create an effective RNAi treatment. ow.ly/Y5z850QP64c

We are so proud of this programme. Go and watch it now.

Thank you ITN Business for all your hard work to bring this to life.

🧬 On #RareDiseaseDay , we're taking further action to improve the lives of people with rare conditions.

This includes:
🧬 research to help speed up diagnosis and treatment
🧬 specialist care as close to home as possible

Read our action plan: gov.uk/government/pub…

People with rare conditions sometimes call themselves ‘zebras’, thanks to the old medical saying ‘when you hear hooves, think horse, not zebra’.

Here at JWMDRC we are #TeamZebra ! #RareDiseaseDay2024 #ShowYourStripes

🦓🦓🦓