@helenwalkerncl
UK Myotonic Dystrophy & FSHD Patient Registries Manager at JWMDRC. Pls follow: @jwmdrc-registries.bsky.social / @jwmdrc.bsky.social (she/her) *Views my own* #neuromuscular #nmd #PatientRegistries #dm1 #dm2 #fshd #RareDisease #research #genetic
Our national and international #neuromuscular patient registries are proud to support #RareDiseaseDay!
Learn more about our work at jwmdrc.org/networking/registries
#LightUpForRare #ShareYourColours
Sign up to our second local FSHD awareness day using the link below. This event was a smash hit last year and we can't wait to run it again! #WorldFSHDday #RareDisease
Now for our big news... I'm delighted to announce that the UK FSHD Patient Registry has now 🌟 RELAUNCHED 🌟 onto our new bespoke registry platform, with improved questionnaires and features!
Visit our website to learn more and sign up today!
👀 www.fshd-registry.org.uk 👀
#FSHD #WorldFSHDday
We were fortunate to attend the @fshdsociety.bsky.social International Research Congress and FSHD Europe Patient Connect meetings last week.
These fantastic events brought together the FSHD community across Europe to make new connections and share research advancements #WorldFSHDday
🍊 Today is World FSHD Day!
📅 Held on June 20th to raise public awareness of #FSHD
🧬 Our Patient Registry helps advance research and development of treatments, therapies, and care for all those diagnosed with FSHD in the UK.
💻 Visit our newly revamped website to learn more: fshd-registry.org.uk
I'll be attending the #MDUK Northern Ireland Info Day in a few weeks' time to present the @jwmdrc-registries.bsky.social.
Come to our registries stand to learn about how we can support #NMD families, improve equality of access to #trials, and advance #research into these rare genetic conditions...
Fantastic turnout for today's #MyotonicDystrophy awareness day, and lots of interest in signing up to the registry! Learn more about how our team support #NMD patient and research communities by visiting our website JWMDRC.org/networking/registries
💚💬🧬🤝👀
Looking forward to the MDSG #MyotonicDystrophy Patient Awareness day today. I'm on the agenda to talk about the registry this morning, and we'll be on hand to answer questions all day 💚 Visit MDSG's website for more info... www.myotonicdystrophysupportgroup.org/about-mdsg/
The UK #MyotonicDystrophy Patient Registry contributed anonymous data from our verified #DM2 patients for this impressive research paper. See more projects and publications we've supported on our website - www.dm-registry.org.uk
#RareDiseaseDay
✨In 2022, the amazing Sarah & her incredible daughter Zoé shared a bit about their experiences living with #myotonicDystrophy & how finding MDF's support programs changed their lives. 💚🗣️Learn how you can amplify DM this #RareDiseaseDay and change the future of DM at: www.myotonic.org/rare-disease...
I'm proud to represent the UK #DM #PatientRegistry on the #MyotonicDystrophy Global Alliance 💚🎗️
This expert group demonstrates the power and importance of international collaboration in the fight against rare conditions, read more below... 🇬🇧🤝🌍
#RareDiseaseDay
#NMD #DM1 #DM2 #neuromuscular
@mdukcharity.bsky.social 😘
We couldn't run the #UK #MyotonicDystrophy #Patient #Registry without the generous contributions of our charity supporters.
This #RareDiseaseDay, please consider donating to help them continue their fantastic work!
🧡 musculardystrophyuk.org
💚 myotonicdystrophysupportgroup.org
💛 curedm.co.uk
The @jwmdrc.bsky.social national patient registries for #FSHD and #MyotonicDystrophy are proud to support #RareDiseaseDay!
Our work to help advance #neuromuscular research is not possible without pioneering patients, parents & families sharing their health data - a huge ⭐️THANK YOU⭐️ to you all! 👏🏅📝
Looking forward to our first Rare Disease Day on #Bluesky tomorrow! 🦋📅
The registries team are preparing our online content today using free resources provided by www.rarediseaseday.org 🖐️🧬
Please help to share information and raise awareness by reading & sharing #RareDiseaseDay posts on #28Feb 👀💻
Pink Ladies are bouba, Granny Smiths are kiki. I will be taking no further questions.
#Bouba #Kiki #Apples
A group of individuals engaged in a lively discussion around a table, with one person standing and leaning over to look at a document that another person is showing. Everyone is smiling and appears engaged in the conversation. The setting looks like a classroom or workshop environment.
A person presenting a statistical graph on a projector screen during a seminar, with the audience in foreground listening attentively.
A group of six individuals engaged in a discussion around a table in a classroom. One person is standing, pointing at a document on the table, while the others, seated, look on attentively. A whiteboard with the word "Homework" and a diagram is visible in the background.
Person wearing a hijab using a Ruskin Bug Box Plus in a laboratory setting.
Do you know a woman or girl who has made a positive impact in Newcastle?
For #IWD2025, we're joining Newcastle Council to celebrate inspirational women shaping our city & making a difference in our communities 💜
To nominate visit 👇
forms.office.com/Pages/Respon...
#WeAreNCL
Data Coordinator Lucy with registry posters
Data Coordinator Aleks with registry posters
The curators' meeting was also a fantastic opportunity for our newest team members, Data Coordinators Lucy and Aleks, to learn more about the network and meet the rest of the TGDOC family. They presented registry posters, made lots of valuable connections and represented our team brilliantly! 👏🧬
The JWMDRC Registries Team
Registry manager Helen co-leading the FSHD registries subgroup
Registry manager Sam presenting updates on the global FKRP registry
Registry manager Julie networking
Great to see so many of our global registry network colleagues at the TREAT-NMD Annual curators meeting in Milan this week! 🌍🤝 Our registries team were involved throughout, leading disease subgroup discussions, presenting our registries and making new connections with registries around the world...
The combined feeling of relief and frustration when you finally crack the mysterious logic of your hotel room light switches... 😂💡
We are celebrating a publication describing the efficacy of a new MRI sequence call sodium MRI to detect early damage in skeletal muscle of individuals after an exercise.
This is a collaboration between MRI centre & JWMDRC funded by Jain Foundation through the COS study. 🙌
bit.ly/4gviylW
We have a new social media account on BlueSky alongside our previous accounts, so please follow us for updates on the translational research we do that brings diagnosis, care and therapy to people living with neuromuscular diseases! 🙌
🗣️🤝An important way to ensure #PatientVoice' is included in your research is to collaborate with a #Patient #Registry, like ours covering FSHD in the UK: www.fshd-registry.org.uk
💻📝 Registries can provide high-quality longitudinal #data reports and can also support data collection and recruitment.
👀 💰 Are you searching for #funding for your #FSHD #research?
🧬🌐 This FSHD Society webpage has information on funding opportunities and grant calls currently available from funders all over the globe... www.fshdsociety.org/grants/
Image with the words 'What do YOU want the world to look like for people with a muscle wasting and weakening condition in 10 years?'
#MuscularDystrophy #UK (@mdukcharity.bsky.social 👋) have launched a patient survey to help develop their new strategy.
🗣️ Ensure your #PatientVoice is heard! Complete the survey here before it closes on 17 Feb: loom.ly/F45mAwg 📝
#Neuromuscular #NMD #MyotonicDystrophy #DM1 #FSHD #SMA
Zooming in on the ultimate connection! 🔬 💥Feast your eyes on this stunning electron microscopy image of a neuromuscular junction #EMFriday #ElectronMicroscopy
Home to our patient registries team, and a world-leading centre of #MuscularDystrophy research, The John Walton Muscular Dystrophy Research Centre (JWMDRC) is now on Bluesky here @jwmdrc.bsky.social
Please follow JWMDRC for news, events and information on #translational #neuromuscular #research
Flyer for FSHD Connect Event
Excited to see #FSHDEurope and @fshdsociety.bsky.social announce the first FSHD Connect Europe meeting will be held this summer! This patient-focussed event should be a great opportunity to network with other #FSHD families, researchers and clinicians.
🔎 fshd-europe.info/fshd-connect...
🍊 🧬 🌍 🇪🇺
Thinking today of John Sulston's words on the completion of the Human Genome.
"Let us continue to work together to ensure that the enormous benefits from this new knowledge flow to all and not just to the few.”
I think, in the next few years, we will have to fight to keep this vision alive.
Well this is... not good
