Need HSPB8 testing?
We just updated our “Where to Test” section with a new table of labs in US, Canada & Europe offering HSPB8 gene tests – both single gene & panel-based!
🧬 Find testing options here: buff.ly/19sB8Jo
#HSPB8 #MFM13 #GeneticTesting #RareDisease #CureHSPB8
🧬 Help turn rare into cured.
Get the latest on HSPB8 research, treatments & patient voices in the Cure HSPB8 newsletter.
Join the movement 👉 curehspb8.org
#CureHSPB8 #RareDisease
🧬 What counts as a rare or ultra-rare disease?
Rare (EU): rare <1 in 2,000; ultra-rare 1 in 50,
Rare (US): rare <200,000; ultra rare >7,000 people across country
MFM13s is ultra-rare.
But rare ≠ invisible.
Let’s raise awareness 💜
#RareDisease #UltraRare #MFM13 #CureHSPB8
🧬 Help turn rare into cured.
Get the latest on HSPB8 research, treatments & patient voices in the Cure HSPB8 newsletter.
Join the movement 👉 curehspb8.org
#CureHSPB8 #RareDisease
🎧 Ep. 2 of the Cure HSPB8 Podcast is live!
This episode unpacks HSPB8 Myopathy – what it is, how it progresses, and the critical role genetic testing plays in diagnosis.
🧬 Available here: buff.ly/szuDROh
#RareDisease #GeneticTesting #HSPB8Myopathy #CureHSPB8 #PodcastLaunch
New on the Cure HSPB8 blog!
We just got back from the World Orphan Drug Congress USA 2025, where we shared our story, our science, and our vision for a cure.
Read our recap here: 🔗 buff.ly/qJcfmJO
#WODCUSA #RareDisease #HSPB8 #CureHSPB8 #OrphanDrugDevelopment #HopeInScience
What are the symptoms of HSPB8 myopathy?
🦵 Muscle weakness (hips, shoulders)
💪 Muscle wasting
🚶 Difficulty walking
⚡ Cramps & fatigue
🐢 Slow progression over years
Each case is unique. Diagnosis often involves muscle biopsy & genetic testing. #HSPB8 #RareDisease #MyopathyAwareness #CureHSPB8
HSPB8 myopathy researchers:
📢 Coriell now uses updated MFM13 nomenclature for HSPB8 cell lines!
🧬 Cell lines are available to support your work.
#MFM13 #HSPB8 #RareDisease #Myopathy #CureHSPB8
🎧 New podcast alert!
Cure HSPB8 - The podcast just launched - and Ep. 1 is live!
We’re sharing our story, our mission, and our fight for a life free of HSPB8 Myopathy.
🧬 Listen here: rss.com/podcasts/cur...
#RareDisease #CureHSPB8 #HSPB8Myopathy #PatientAdvocacy #PodcastLaunch
💙 Are you accessing all the support & resources available for #HSPB8?
🔹 Info for patients & families
🔹 Medical knowledgebase for professionals
🔹 Latest research updates
🔹 Advocacy & community initiatives
Explore more: 🔗 curehspb8.org
#CureHSPB8 #RareDisease #PatientSupport
Living with a rare health condition like HSPB8 #myopathy can be challenging, but you are not alone. 💙 #CureHSPB8 is here to support patients, caregivers, and families through collaboration with @Orphanet, @to-cure-a-rose-foundation @CORDS @NORD @globalGenes @MDA OMIM , and more.
#RareDiseases
Meet Sylwia Szwec, our new Research Program Manager at #CureHSPB8! With a PhD in progress on Duchenne Muscular Dystrophy and experience in drug regulation, Sylwia’s joining us to help turn science into therapies. #TeamScience #RareDisease
#HSPB8 = muscle guardian 💪
Prevents protein clumps
Recycles damaged proteins
Protects muscles during stress
A critical player in keeping your muscles healthy and functional!
#CureHSPB8 #RareDisease #PatientAdvocacy
We wrapped up an inspiring week at #WODC2025 in Boston! We are returning with renewed motivation and valuable connections to further our mission. Thank you to all who shared their knowledge and passion. #RareDisease #OrphanDrugs #CureHSPB8
🚨 Big news: Cure HSPB8 has received new 2025 funding from @volofoundation.bsky.social!
This support helps us expand research, grow our patient registry, and drive awareness for #HSPB8Myopathy. Grateful for partners who believe in science & impact! 💙
#CureHSPB8 #RareDiseasen #PatientAdvocacy
🚨 New study: #HSPB8 delays aggregation of TDP43—key in #ALS & #FTD
Could this small heat shock protein, known from rare myopathies, be a therapeutic lead for broader neurodegeneration?
From niche to novel target?
www.biorxiv.org/content/10.1...
#CureHSPB8 #Neurodegeneration #RareDisease
🚨 Partnership Alert! 🚨
We’re teaming up with the To Cure A Rose Foundation to accelerate research and find a treatment for HSPB8-related neuromuscular diseases!
Collaboration = Faster progress. More hope. A future with cures.
#CureHSPB8 #RareDisease #ScienceForHope #CollaborationMatters
New review on HSPB8-related neuromuscular disorders just published!
Explore how mutations in HSPB8 contribute to diseases like inclusion body myopathy & distal hereditary motor neuropathy.
📖 Read here: www.mdpi.com/1422-0067/26...
#CureHSPB8 #RareDisease #HSPB8Myopathy #NeuromuscularDisorders
CureHSPB8 is a proud member of the Global Genes RARE Foundation Alliance! Together, we’re amplifying awareness and driving research for rare diseases like #HSPB8Myopathy. 💙
Learn more about our partnership here: curehspb8.org/blog/global-...
#RareDisease #PatientAdvocacy #CureHSPB8 #GlobalGenes"
📢 The Cure HSPB8 2024 Annual Report is out!
This year, we made strides in research, advocacy & collaboration—all thanks to YOU. Check it out & see how we’re shaping the future of #RareDisease research.
🔗 Read here: static1.squarespace.com/static/654c0...
#CureHSPB8 #AnnualReport #ResearchMatters
Meet Catherine, whose journey with #HSPB8Myopathy began after seeing symptoms in her father and later experiencing them herself. She stays active with Pilates & water aerobics while holding hope for breakthroughs in research. 💙
Read her story here: curehspb8.org/families/#Pa...
#CureHSPB8
Frameshift mutations in #HSPB8:
❌ Disrupt protein function
❌ Impair protein recycling
❌ Cause muscle degeneration
Learn more at: curehspb8.org/research
#CureHSPB8 #RareDisease #PatientAdvocacy
📣 #HSPB8 #Myopathy is now officially Myofibrillar Myopathy type 13, with rimmed vacuoles (MFM13)!
This listing brings awareness to HSPB8 myopathy and supports our mission to empower and assist patients and families. Explore our listing here: omim.org/entry/608014
#CureHSPB8 #RareDisease
💙 Are you accessing all the support & resources available about #HSPB8?
🔹 Info for patients & families
🔹 Medical knowledgebase for professionals
🔹 Latest research updates
🔹 Advocacy & community initiatives
Explore more: 🔗 curehspb8.org
#CureHSPB8 #RareDisease #PatientSupport
HSPB8 mutations = rare diseases
⚡ Myopathies
⚡ Neuropathies (CMT)
⚡ ALS connections
#CureHSPB8 #RareDisease #PatientAdvocacy
#HSPB8 in neurons 🧠
1️⃣ Clears toxic proteins
2️⃣ Recycles damaged proteins
3️⃣ Fights stress & protects against disease!
#CureHSPB8 #RareDisease #PatientAdvocacy
💙 As #RareDiseaseMonth ends, we honor the strength of the rare disease community. Let’s keep sharing stories, driving research, and building hope for conditions like #HSPB8 #Myopathy.
👉 Get involved: curehspb8.org/families/#Ge...
#CureHSPB8 #RareDiseaseAwareness
📬 Stay in the loop! Sign up for our #newsletter to receive updates on research, patient stories, and advocacy efforts. Let’s make strides in the fight against #HSPB8 #myopathy together! 💙
👉 Subscribe: curehspb8.org/contact
#CureHSPB8 #RareDisease
Dr. Ania Kordala, Program Director at #CureHSPB8, will attend the Polish Rare Disease Day Conference on Feb 28 to advocate for #HSPB8 #Myopathy & connect with global experts in #RareDisease research.
Learn more at dzienchorobrzadkich.org
#RareDiseaseDay #PatientAdvocacy
CureHSPB8 is a Friend of RareDiseaseDay.org!
We’re joining the global movement to raise awareness & improve healthcare for those with HSPB8 myopathy & other rare diseases 💙
🔗 Learn more: www.rarediseaseday.org/friends/cure...
#CureHSPB8 #RareDiseaseDay #RareDiseaseAwareness"
