#ICYMI Here Wes Michael, CEO of Rare Patient Voice talks about the strain caregiving can have on relationships and the lack of support available in our last RARE REV-inar. You can watch all the videos on YouTube here: https://bit.ly/RPV-RARE-REVinar
#Caregiving #RareDisease
"August is SMA Awareness Month!
Spinal muscular atrophy (SMA) is a rare genetic and progressive neuromuscular condition occurring in approximately 1 in 6,000 to 10,000 live births.
SMA Europe’s community, nowadays, comprehends different generations with different needs and contexts from many different countries. There is a strong need to keep working on a strong social base for our community and keep all our actions patient-relevant.
The 2024 Summer Awareness Campaign aims to unite our community under one, common hashtag: #WeAreOne while enhancing the fact that even if our community is so diverse, we keep having one, common dream: to create a better world for all people living with SMA.
Thanks to @RareRevolutionM for #tuesdaytakeover!
#WeAreOne #OneCommunitySharedDreams #SpinalMuscularAtrophy #RareDisease #SMAAwarenessMonth"
SMA Europe
"A few weeks ago, DEBRA Vice-President Graeme Souness and DEBRA Ambassador, 16 year old Isla Grist, who lives with recessive dystrophic epidermolysis bullosa (RDEB), were on BBC Breakfast to raise awareness of EB and to announce the epic fundraising challenge that Graeme and Team DEBRA will be taking on in September.
You can watch the full interview and read more about the team's challenge here: https://donate.giveasyoulive.com/fundraising/debra-uk-challenge-2024
#TuesdayTakeover #EpidermolysisBullosa "
"At the beginning of the year, DEBRA UK launched their BE the difference for EB appeal, aiming to raise £5 million by the end of 2024 to…
💙Provide enhanced EB community care to support people living with EB today
💙 Invest in research to find effective drug treatments for tomorrow.
Find out more about the appeal and how you can get involved: https://www.debra.org.uk/Appeal/be-the-difference-for-eb
#TuesdayTakeover #EpidermolysisBullosa "
"🙏 Many thanks to Rare Revolution for the opportunity to share more about who we are and what we do on the path to creating a cure for YWHAG-related disorders!
Our success relies heavily on the generosity of our donors and from our parent-founders of an affected son.
If you'd like to support our critical research initiatives and other endeavors, please consider making a donation on our website:
🔗
https://www.ywhagfoundation.org/donate
Any contribution no matter the scale will help us make significant progress towards finding a cure!
#tuesdaytakeover
#RareDisease
#TurningTheTide4RAREDisease
#YWHAG
#HopeForACure"
YWHAG Foundation
"🧬 At YWHAG Research Foundation, our primary objective is to advance scientific understanding and develop effective treatments for YWHAG-related disorders.
Our Research Advisory Board consists of experts in genetics, neurology, and molecular biology. They work tirelessly to advance our understanding of YWHAG mutations, their impact on protein function, and potential therapeutic targets. Here's a quick snapshot of current projects:
🧪 Drug Repurposing Project with Rarebase now Transcripta Bio (global biotech platform): this key initiative aims to identify existing drugs which target 14-3-3γ protein deficiency. This project holds great potential to accelerate the development of effective treatments for YWHAG-related disorders.
🏁 Stay tuned for incoming 2024 progress reports from our recent research!
🔗
https://www.ywhagfoundation.org/research-projects
#tuesdaytakeover
#RareDisease
#TurningTheTide4RAREDisease
#YWHAG
#HopeForACure"
YWHAG Foundation
🎉🌍 We’re thrilled to share that the #MWSF recently hosted its 2024 International Family Conference! Over 200 individuals came together to make connections, share knowledge, and create memories. The event is an amazing opportunity for families affected by the disease to find a support system and learn they are not alone. Watch the livestream of our Conference --> https://www.youtube.com/@MWSFEvents
Mowat-Wilson Syndrome Foundation
"🌟 Unlocking the Future with Research! 🌟
At MWSF, we believe that research is the key to unlocking better understanding, treatment, and ultimately a cure for Mowat-Wilson Syndrome (MWS). Every study, every discovery, and every breakthrough brings us one step closer to improving the lives of those affected by MWS. 🧬✨ Join us in supporting research efforts to make a real difference! Your contributions help fund critical studies and support the brilliant minds dedicated to finding solutions for MWS. Together, we can pave the way to a brighter future. 💙🔬
#ResearchMatters #MWSAwareness #SupportMWSF #HopeThroughResearch"
Mowat-Wilson Syndrome Foundation
What is Mowat-Wilson Syndrome? #MWS is caused by variants in the ZEB2 gene described in 1988 by doctors David Mowat and Meredith Wilson. This rare disease affects roughly 1 in every 60,000 births. Watch the full video to learn more --> https://www.youtube.com/watch?v=ZqJlHWAwG2w
Mowat-Wilson Syndrome Foundation
A huge thank you to RARE Revolution Magazine for today's #TuesdayTakeover! We're raising awareness for Mowat-Wilson Syndrome, a rare genetic disease. Join us in spreading knowledge, hope, and support. Learn more: https://mowat-wilson.org #RareDisease #MWSF
Mowat-Wilson Syndrome Foundation
Our heartfelt thanks again to Rare Revolution Magazine and for those following along this #TuesdayTakeover! We'd love to stay in touch - Please connect with us on social media! You can also learn more and sign up for our newsletter on our website at https://curectnnb1.org #careaboutrare #ctnnb1syndrome #raredisease #curectnnb1 #connectandcure
Ctnnb1 Connect & Cure
CTNNB1 Awareness Day is in TWO DAYS! On Thursday, the 25th, will you join us in raising awareness for this rare disease? Awareness days offer a great opportunity fight against rare together with other patient groups. We would love to see other organizations share CTNNB1 posts this week! For more ways to help, check out https://curectnnb1.org/ctnnb1-awareness-day/ #strongertogether #raredisease #ctnnb1awareness #ctnnb1syndrome #careaboutrare
Ctnnb1 Connect & Cure
Our dragonflies are our WHY! As we fight for them, we are constantly encouraged by their adaptability, fueling our hope for a better future. Also, this may be a little biased, but they are SO CUTE! Check out the faces and stories of our dragonflies at https://curectnnb1.org/community/meet-our-dragonflies/ #ctnnb1syndrome #ctnnb1 #dragonfly #raredisease #curectnnb1 #hopeforctnnb1
Ctnnb1 Connect & Cure
CTNNB1 Connect & Cure is 100% volunteer-run so that our funds can go directly towards our mission. Behind everything we do lies a grounding focus on supporting our patient community, nourishing connections, and progressing the research for treatments. You can read more at https://curectnnb1.org/about/ Ctnnb1 Connect & Cure
Our community and research network are working tirelessly towards potential treatments for those affected by CTNNB1 Syndrome. With 6 approaches underway, we are extremely hopeful for the future! Learn more at https://curectnnb1.org/research/
Ctnnb1 Connect & Cure
About 1/4 of Cerebral Palsy cases have an underlying genetic cause, and CTNNB1 Syndrome is at the top of the list! Many may not think to look for a genetic diagnosis once they have the clinical diagnosis of CP, but it is crucial for optimized patient care. There are some symptoms of CTNNB1 Syndrome that general CP patients may not be screened for, including exudative retinopathy, tethered spinal cord, and heart defects. These particular conditions can have devastating effects if left untreated. For this reason, we encourage all patients with Cerebral Palsy to get whole exome or whole genome genetic testing. Receiving an underlying genetic diagnosis also opens the doors to a more specific community of love, support, and understanding You can read more at https://curectnnb1.org/ctnnb1-and-cerebral-palsy/ #ctnnb1syndrome #ctnnb1 #raredisease #cerebralpalsy #genetictesting #community #raredisease
Ctnnb1 Connect & Cure
CTNNB1 Syndrome can manifest in a variety of symptoms, all of which are caused by the disruption of the production of the protein that the CTNNB1 gene codes for: beta-catenin. To date, there are approximately 430 documented cases of CTNNB1 Syndrome, though we expect this number to multiply in the near future as access to genetic testing increases. We have the utmost gratitude for the time and effort of all of the researchers who are constantly building upon our understanding of the disease. Publications about CTNNB1 Syndrome can be found on our website at https://curectnnb1.org/research/publications/.
Ctnnb1 Connect & Cure
Thank you Rare Revolution Magazine for this #TuesdayTakeover! We are so excited to share information about CTNNB1 Syndrome and the work that our organization does. We hope all of the RRM followers enjoy and join us for CTNNB1 Awareness day on the 25th! #ctnnb1syndrome #ctnnb1awareness #raredisease #curectnnb1
https://curectnnb1.org/
Ctnnb1 Connect & Cure
PWS can present many obstacles such as an insatiable hunger, difficulty controlling emotions and behaviour, orthopaedic issues, sleep problems... just to name a few. But when you meet someone with PWS you will be meeting someone with courage, resilience, and a loving and amazing personality. Here are some of our PWS Community facing their challenges and taking on the world! #fpwruk #takeovertuesday #praderwillisyndrome #pws
The Foundation for Prader-Willi Research
