It's been 2 years since Cure MFM13 (previously Cure HSPB8) was founded by Todd King!
Since then our main goal did not changes. We are working together to find a treatment and a cure using state-of-the-art technologies and advances in science.
#MFM13 #2anniversary #RareDiseases
Tomorrow Cure MFM13 will be featured in @RareRevolutionM, an independent magazine giving a voice to the rare disease community.
For a disease with ~60 known patients, every bit of visibility matters. Stay tuned!
🔗 rarerevolutionmagazine.com
#CureMFM13 #MFM13 #HSPB8 #RareDisease
Our 2025 Annual Report is out!
MFM13 is now officially recognized as a distinct disease entity - and that's just one of the last year's milestones. A mouse model, antibodies, community support progress - it's all in there.
Read the full report at curemfm13.org
#MFM13 #HSPB8 #RareDisease
It’s Rare Disease Month. The stats are louder than you think:
🔹 more than 300M people affected globally
🔹 70% of rare diseases start in childhood
🔹 around 80% are #genetic
#CureMFM13 is proud to stand with the #RareDisease community, fighting to change the future for #MFM13 patients.
Have you been wondering how exercise impacts HSPB8 levels and overall #autophagy processes in #MFM13?
There are hardly any answers to this question, but we have reviewed research available so far. Check out our website to find the most important takeaways!
buff.ly/9FOrnNa
#Exercise #HSPB8
Very often, January is a time for reflecting on the year we’ve just been through - and that’s exactly what we recently did.
Check out our latest blog post to learn more about our year → buff.ly/XFlkSxw
#MFM13 #2025 #NewYearSummary
New Podcast (Ep. 8) out now!
We review MFM13 case studies, covering diagnosis, age of onset, phenotype, clinical & muscle biopsy findings. We also explain how HSPB8 frameshift mutations drive protein toxicity, autophagy changes & muscle weakness.
🔗 buff.ly/FpMgHtB
#HSPB8 #MFM13 #CASAComplex
🎄 Happy Holidays from Cure MFM13!
Thank you to our amazing community for supporting research & awareness for #MFM13 #HSPB8 in 2025. We’re taking a short holiday break and look forward to continuing the work in the new year. See you in 2026!
MFM13 Patients Worldwide
This map shows people with a confirmed MFM13 (HSPB8) diagnosis. Every number is a patient and a family.
👉 Learn about genetic testing on our website buff.ly/32GLVib
#MFM13 #RareDisease #GeneticTesting #HSPB8 #RareDiseaseAwareness
🔬 MFM13 vs CMT2L
CMT2L comes from HSPB8 mutations (K141N/K141T). It’s autosomal dominant with distal weakness, atrophy & sensory loss.
🔍 Unlike MFM13, CMT2L is axonal—nerve damage first.
🧪 Dx: symptoms, nerve studies + HSPB8 testing.
#HSPB8 #CMT2L #MFM13 #Neuromuscular #RareDisease
New study by Fu et al. 2025 shows HSPB8 acts as a tumor suppressor in prostate cancer
Low HSPB8 levels promote growth via PI3K–AKT–mTOR signaling.
Read the full article here → 📖 buff.ly/SgGOApa
#HSPB8 #CancerResearch #MFM13
New study by Xiaolong Chen et al. reveals new roles for HSPB8 in gallbladder cancer 🧬
HSPB8 was identified among key genes linked to immune protection via tertiary lymphoid structures.
#HSPB8 #MFM13 #HeatShockProteins #CancerResearch
📖
🧬 New blog post!
Tedesco et al., 2025 reveal 3 new HSPB8 mutations linked to MFM13.
Elongated HSPB8 disrupts the CASA complex, impairing proteostasis.
🔗 Read our full summary: buff.ly/cMr4goI
#HSPB8 #MFM13 #RareDisease #Myopathy #Autophagy #CASAcomplex
Proud to represent CureMFM13 at the #WODC2025 in Amsterdam 🇳🇱!
We presented our poster CureMFM13: Connecting Patients, Research, and Industry”— sharing how collaboration drives progress for #MFM13 and the rare disease community.
#RareDisease #PatientAdvocacy #GeneTherapy
Studying HSPB8 or the CASA autophagy complex?
Check out our growing MFM13 Library of research papers & case studies!
🔗 buff.ly/3geLAsI
#MFM13 #Myopathy #HSPB8
🎉 Exciting news!
MSc Veronica Marchesi has been admitted to the PhD program in Pharmacological Biomolecular Sciences, Experimental and Clinical at the University of Milan.
We’re thrilled that she will continue her important work on #MFM13, and can’t wait to see all her future successes!
The IIMCB and Cure MFM13 are developing a new mouse model 🐭 for MFM13 — an ultra-rare muscle disease caused by a mutation in the HSPB8 gene.
Using CRISPR/Cas9, researchers aim to uncover its biology and pave the way for new therapies 💊💙
See the video: tinyurl.com/3h56t42t
#RareDiseases #MFM13
🌍 Meet Cure MFM13 at the World Orphan Drug Congress 2025 in Amsterdam, 28–29 Oct!
Our poster: “Cure MFM13: Connecting Patients, Research & Industry”
🤝 Looking to connect with researchers, industry, iPSC therapy innovators & advocacy groups.
#WODC25 #MFM13 #RareDisease
🧬 KEGG lists HSPB8 (hsa:26353) as a causal gene in:
- Charcot-Marie-Tooth disease
- Myofibrillar myopathies (MFM13)
- Distal hereditary motor neuropathies
Explore more here: buff.ly/BvfUIQ8
#HSPB8 #RareDisease #MFM13
🌍 Sylwia Szwec represented CureHSPB8 at #BIO2025 in Poznań.
She joined lectures on muscle-wasting diseases & autophagy, met with scientists, and presented our mission to raise awareness of MFM13.
Collaboration is key to turn discovery into treatment.
#BIO2025 #HSPB8 #MFM13
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
Update from our visit to PORT Łukasiewicz, Wrocław
We joined the meeting; Models of Collaboration between Patient Advocacy Groups and Scientists.
Met inspiring Patient Advocacy groups
Learned from scientists about new research & testing
Left with fresh ideas for future Cure HSPB8
#RareDisease #MFM13
Today, Dr. Ania Kordala & Sylwia Szwec represent Cure HSPB8 at PORT Wrocław to discuss models of cooperation between patient orgs & scientists.
🤝 Collaboration = stronger advocacy for #MFM13 patients.
#RareDisease #PatientAdvocacy #HSPB8
🧪 What does MFM13 look like?
• Muscle weakness (arms, legs, hands)
• Trouble walking or climbing stairs
• Cramps, fatigue
• In some: breathing problems
🔗 Learn more buff.ly/bToH6HF
#MFM13 #HSPB8 #RareDisease #MuscleWeakness #Myopathy
Since the first HSPB8 case (Ghaoui 2016), 8 more reports on #MFM13 have been published.
🧬 They show shared traits & differences across patients—supporting diagnosis, research & disease insight. Full list on our FB & LinkedIn. #RareDisease #Genetics #Neuromuscular
#HSPB8 works with BAG3 in the CASA complex, guiding damaged proteins to autophagy.
A frameshift mutation disrupts this process — the system breaks down, misfolded proteins accumulate, and muscle fibers deteriorate.
This is what causes #MFM13.
Learn more
🧬 England Genomics and NHS England offer specialized Distal Myopathy Panel that includes HSPB8, the gene linked to MFM13.
🔎 Search “HSPB8” on their site to explore all available panels and learn more about testing options.
buff.ly/uWEfWG3
#HSPB8 #MFM13 #GeneticTesting #Myopathy #DistalMyopathyPanel
🧹 Autophagy = your cell’s waste disposal + recycling system.
It removes damaged proteins and prevents toxic buildup.
In muscle cells, this system relies on HSPB8.
When it fails?
❌Waste piles up.
❌ Muscle cells break down.
That’s what happens in #MFM13.
#Autophagy #HSPB8 #CellCleanup #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
🧬 Health in Code (Spain) offers specialized genetic panels for muscle disorders that include HSPB8, the gene linked to MFM13.
🔎 Search “HSPB8” on their site to explore available panels and learn more about testing options. buff.ly/lzcUBB1
#HSPB8 #MFM13 #GeneticTesting #Myopathy #Neuromuscular
