JWMDRC Patient Registries
@jwmdrc-registries.bsky.social
Our neuromuscular research databases offer patients the chance to securely share their data and stories to support and access research.
https://linktr.ee/jwmdrcregistries
#UK #NMD #DM1 #DM2 #FSHD #SMA #Col6 #FKRP #MTM #CNM #Myotonic #MuscularDystrophy
https://linktr.ee/jwmdrcregistries
#UK #NMD #DM1 #DM2 #FSHD #SMA #Col6 #FKRP #MTM #CNM #Myotonic #MuscularDystrophy
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
Join us for the FSHD Engagement Day in Newcastle on 25 Sept 2025! Connect with others, hear from experts & explore key aspects of life with FSHD.
Book your place: rb.gy/gabmw7
#FSHD #FSHDUK #FSHDEurope #WorldFSHDDay
Book your place: rb.gy/gabmw7
#FSHD #FSHDUK #FSHDEurope #WorldFSHDDay
June 20, 2025 at 2:28 PM
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
Visit our website to learn more and sign up today!
👀 www.fshd-registry.org.uk 👀
#FSHD #WorldFSHDday
June 20, 2025 at 1:01 PM
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
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
These fantastic events brought together the FSHD community across Europe to make new connections and share research advancements #WorldFSHDday
June 20, 2025 at 12:58 PM
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
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
📅 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
June 20, 2025 at 12:55 PM
🍊 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
📅 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
Living with, or interested in #Neuromuscular conditions in #NorthernIreland?
Visit qrco.de/bfrgRQ to register for free @mdukcharity.bsky.social Information Day on 4th June.
Our registries team will be there to present our work, answer your questions and support new patient registrations.
🧡👋🧬💻🤝
Visit qrco.de/bfrgRQ to register for free @mdukcharity.bsky.social Information Day on 4th June.
Our registries team will be there to present our work, answer your questions and support new patient registrations.
🧡👋🧬💻🤝
May 14, 2025 at 10:02 AM
Living with, or interested in #Neuromuscular conditions in #NorthernIreland?
Visit qrco.de/bfrgRQ to register for free @mdukcharity.bsky.social Information Day on 4th June.
Our registries team will be there to present our work, answer your questions and support new patient registrations.
🧡👋🧬💻🤝
Visit qrco.de/bfrgRQ to register for free @mdukcharity.bsky.social Information Day on 4th June.
Our registries team will be there to present our work, answer your questions and support new patient registrations.
🧡👋🧬💻🤝
Reposted by JWMDRC Patient Registries
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
💚💬🧬🤝👀
💚💬🧬🤝👀
March 29, 2025 at 6:07 PM
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
💚💬🧬🤝👀
💚💬🧬🤝👀
Registry Managers Helen and SAM (and team mascot Reggie 🦁) are on their way to Glasgow to attend the #MyotonicDystrophy Patient Information Day tomorrow. We'll be presenting the UK DM Patient Registry and supporting new registrations, come and say hello if you're coming along! 💚🖐️🧬
#DM1 #DM2 #NMD
#DM1 #DM2 #NMD
March 28, 2025 at 3:48 PM
Registry Managers Helen and SAM (and team mascot Reggie 🦁) are on their way to Glasgow to attend the #MyotonicDystrophy Patient Information Day tomorrow. We'll be presenting the UK DM Patient Registry and supporting new registrations, come and say hello if you're coming along! 💚🖐️🧬
#DM1 #DM2 #NMD
#DM1 #DM2 #NMD
Reposted by JWMDRC Patient Registries
Very proud to share our last publication to help improving understanding of the assessment of disease progression in SMA @jwmdrc.bsky.social @mdukcharity.bsky.social @curesma.bsky.social
www.nmd-journal.com/action/showP...
www.nmd-journal.com/action/showP...
www.nmd-journal.com
March 23, 2025 at 5:35 PM
Very proud to share our last publication to help improving understanding of the assessment of disease progression in SMA @jwmdrc.bsky.social @mdukcharity.bsky.social @curesma.bsky.social
www.nmd-journal.com/action/showP...
www.nmd-journal.com/action/showP...
Reposted by JWMDRC Patient Registries
Sam McDonald, a member of the JWMDRC Patient Registries team, recently supported a paper in the Orphanet Journal of Rare Diseases! 👏
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study - Orphanet Journal of Rare Diseases
Background This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia condition...
link.springer.com
March 11, 2025 at 3:42 PM
Sam McDonald, a member of the JWMDRC Patient Registries team, recently supported a paper in the Orphanet Journal of Rare Diseases! 👏
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Reposted by JWMDRC Patient Registries
📽️ Watch this video to learn about what genome sequencing is, its potential benefits and limitations, how often it leads to diagnosis, and what patient groups are more likely to benefit.
#MedSky
#MedSky
How Can Genome Sequencing Be Used for Patient Diagnosis?
Genome sequencing can help diagnose patients with rare diseases and unexplained diseases, but many patients can’t access this genetic test. Lack of knowledge and awareness among both clinicians and patients is one of the barriers to access. Watch this video to learn about what genome sequencing is, its potential benefits and limitations, how often it leads to diagnosis, and what patient groups...
ja.ma
March 21, 2025 at 2:32 PM
📽️ Watch this video to learn about what genome sequencing is, its potential benefits and limitations, how often it leads to diagnosis, and what patient groups are more likely to benefit.
#MedSky
#MedSky
Reposted by JWMDRC Patient Registries
DMD Care UK are running online, live care workshops for health care professionals on 28th March! 👀
Find out more & register here:
jwmdrc.org/about-us/lat...
#DMD
Find out more & register here:
jwmdrc.org/about-us/lat...
#DMD
March 13, 2025 at 3:27 PM
DMD Care UK are running online, live care workshops for health care professionals on 28th March! 👀
Find out more & register here:
jwmdrc.org/about-us/lat...
#DMD
Find out more & register here:
jwmdrc.org/about-us/lat...
#DMD
Our #SMA Data Coordinator Aleks (and our mascot Reggie 🦁) are promoting our #NMD #Patient #Registries at the @mdukcharity.bsky.social Awareness Day in Birmingham today.
Come for a chat, or learn more about how we support #MuscularDystrophy communities online: linktr.ee/jwmdrcregistries
Come for a chat, or learn more about how we support #MuscularDystrophy communities online: linktr.ee/jwmdrcregistries
March 8, 2025 at 12:53 PM
Our #SMA Data Coordinator Aleks (and our mascot Reggie 🦁) are promoting our #NMD #Patient #Registries at the @mdukcharity.bsky.social Awareness Day in Birmingham today.
Come for a chat, or learn more about how we support #MuscularDystrophy communities online: linktr.ee/jwmdrcregistries
Come for a chat, or learn more about how we support #MuscularDystrophy communities online: linktr.ee/jwmdrcregistries
Congratulations on another engaging d thought-provoking #GeneticsMatters event @kasiapirog.bsky.social 👏 Lots of interest in demo's of our new #PatientRegistry platform collaboration with @newcastleuni.bsky.social Research Software Engineering! Our team mascot Reggie even came along to join in... 🦁
March 2, 2025 at 7:06 PM
Congratulations on another engaging d thought-provoking #GeneticsMatters event @kasiapirog.bsky.social 👏 Lots of interest in demo's of our new #PatientRegistry platform collaboration with @newcastleuni.bsky.social Research Software Engineering! Our team mascot Reggie even came along to join in... 🦁
Reposted by JWMDRC Patient Registries
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
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
🌍 This #RareDiseaseDay, the Global Alliance for #myotonicDystrophyAwareness of 60+ orgs unite to advance care & research for #myotonicDystrophy, focusing on: ✅ Educating clinical teams ✅ Enhancing trial readiness 💚 Help us change the future of DM! www.myotonic.org/global-allia...
February 28, 2025 at 4:49 PM
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
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
Reposted by JWMDRC Patient Registries
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
#RareDiseaseDay
February 28, 2025 at 6:29 PM
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
#RareDiseaseDay
Reposted by JWMDRC Patient Registries
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
This #RareDiseaseDay, please consider donating to help them continue their fantastic work!
🧡 musculardystrophyuk.org
💚 myotonicdystrophysupportgroup.org
💛 curedm.co.uk
Together we are stronger - Muscular Dystrophy UK
We connect a community of more than 110,000 people living with one of over 60 muscle wasting and weakening conditions, and all the people around them. So everyone can get the healthcare, support and t...
www.musculardystrophyuk.org
February 28, 2025 at 3:47 PM
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
This #RareDiseaseDay, please consider donating to help them continue their fantastic work!
🧡 musculardystrophyuk.org
💚 myotonicdystrophysupportgroup.org
💛 curedm.co.uk
Reposted by JWMDRC Patient Registries
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! 👏🏅📝
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! 👏🏅📝
February 28, 2025 at 3:31 PM
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! 👏🏅📝
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! 👏🏅📝
Reposted by JWMDRC Patient Registries
#Nutrition matters for people with rare diseases because of vitamin and mineral deficiencies, difficulty swallowing or the need for specialised diets.
➡️ #MedicalNutrition can be an essential treatment and is often the only viable treatment for certain metabolic disorders.
#RareDiseaseDay
➡️ #MedicalNutrition can be an essential treatment and is often the only viable treatment for certain metabolic disorders.
#RareDiseaseDay
February 28, 2025 at 10:24 AM
#Nutrition matters for people with rare diseases because of vitamin and mineral deficiencies, difficulty swallowing or the need for specialised diets.
➡️ #MedicalNutrition can be an essential treatment and is often the only viable treatment for certain metabolic disorders.
#RareDiseaseDay
➡️ #MedicalNutrition can be an essential treatment and is often the only viable treatment for certain metabolic disorders.
#RareDiseaseDay
Reposted by JWMDRC Patient Registries
A disease is rare when it affects fewer than 1 in 2,000 people.
Rare diseases – by the numbers:
🦓300M people with rare diseases
🦓3.5 – 5.9% of the population
🦓72% are genetic diseases
rarediseaseday.org/heroes/
#RareDiseaseDay
Rare diseases – by the numbers:
🦓300M people with rare diseases
🦓3.5 – 5.9% of the population
🦓72% are genetic diseases
rarediseaseday.org/heroes/
#RareDiseaseDay
February 28, 2025 at 10:27 AM
A disease is rare when it affects fewer than 1 in 2,000 people.
Rare diseases – by the numbers:
🦓300M people with rare diseases
🦓3.5 – 5.9% of the population
🦓72% are genetic diseases
rarediseaseday.org/heroes/
#RareDiseaseDay
Rare diseases – by the numbers:
🦓300M people with rare diseases
🦓3.5 – 5.9% of the population
🦓72% are genetic diseases
rarediseaseday.org/heroes/
#RareDiseaseDay
Reposted by JWMDRC Patient Registries
#RareDiseaseDay | How can we make rare disease research more effective and impactful? 🔍
Anabela Isidro, co-leader of (Inter)national Capacity Alignment at ERDERA (AICIB), explains how collaboration is key to driving progress in rare disease research. 🌍🤝
Learn more! 👇
Anabela Isidro, co-leader of (Inter)national Capacity Alignment at ERDERA (AICIB), explains how collaboration is key to driving progress in rare disease research. 🌍🤝
Learn more! 👇
February 27, 2025 at 12:42 PM
#RareDiseaseDay | How can we make rare disease research more effective and impactful? 🔍
Anabela Isidro, co-leader of (Inter)national Capacity Alignment at ERDERA (AICIB), explains how collaboration is key to driving progress in rare disease research. 🌍🤝
Learn more! 👇
Anabela Isidro, co-leader of (Inter)national Capacity Alignment at ERDERA (AICIB), explains how collaboration is key to driving progress in rare disease research. 🌍🤝
Learn more! 👇
Great idea!
28 FEB, 2025
#RareDiseaseDay
& Economic Blackout Day
Please donate the boycott $$$ you save to the medical-support fundraisers of rare-disease patients.
About:
instagram.com/p/DGkuU5IxuvA/?igsh=MzRlODBiNWFlZA==
#RareDiseaseDay
& Economic Blackout Day
Please donate the boycott $$$ you save to the medical-support fundraisers of rare-disease patients.
About:
instagram.com/p/DGkuU5IxuvA/?igsh=MzRlODBiNWFlZA==
February 27, 2025 at 3:01 PM
Great idea!
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 👀💻
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 👀💻
Rare Disease Day 2025 – Raising awareness for people living with rare diseases and their families worldwide.
www.rarediseaseday.org
February 27, 2025 at 1:47 PM
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 👀💻
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 👀💻
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! 👏🧬
February 12, 2025 at 3:38 PM
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! 👏🧬
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...
February 12, 2025 at 3:20 PM
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...
Reposted by JWMDRC Patient Registries
👀 💰 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/
🧬🌐 This FSHD Society webpage has information on funding opportunities and grant calls currently available from funders all over the globe... www.fshdsociety.org/grants/
Grants | FSHD Society
The FSHD Society offers investigator-initiated research grants to support basic, translational and clinical-based research in FSHD.
www.fshdsociety.org
February 5, 2025 at 1:04 PM
👀 💰 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/
🧬🌐 This FSHD Society webpage has information on funding opportunities and grant calls currently available from funders all over the globe... www.fshdsociety.org/grants/