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

Cure MFM13 | Fighting Ultrarare Genetic Muscle Disorder Dedicated to curing MFM13, an ultrarare genetic disorder marked by progressive muscle weakness. Supporting patients, families, and critical research.

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

For many in the rare disease community, the journey starts with a search—not a treatment. It can take 5–7 years to get a diagnosis. This #RareDiseaseDay (Feb 28), we honor that pursuit & push for faster MFM13 diagnosis, new treatments, and stronger connections. #CureMFM13 #HSPB8

This Valentine’s Day ❤️ we’re thinking of the families & researchers driving #CureMFM13.
We’re patient-led, and 100% of donations support #HSPB8 research & our patient registry.
Help fund a treatment: buff.ly/wIOL4qO

Practical Information | For Families | Cure HSPB8 Personal journeys of living with MFM13. Hear from patients and families about diagnosis, daily challenges, and hope for treatment and research.

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

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

Join The Registry By completing the patient registry, you provide invaluable information about the symptoms and progression of MFM13 myopathy, that cannot be obtained otherwise. Data collected is crucial in…

Patient data is one of our most powerful tools. Do you know someone affected by #HSPB8 myopathy? Ask them to join our patient registry: buff.ly/ZFXFAGq

#PatientRegistry #MyopathyResearch #PatientAdvocacy #Join-The-Registry

🎄 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

Frontiers | Recognition of HSPB8 as a potential therapeutic target for prostate cancer Prostate cancer poses a serious burden on men’s quality of life. Identifying novel biomarkers for therapeutic development and prognostic prediction has long ...

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
📖

curemfm13.org A important study by Tedesco et al., published on May 2025, that is collaboration of Angelo Poletti and Viriginia Kimonis ' laboratory teams titled “C-terminal HSPB8 frameshift variants define a…

🧬 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

Library ‍

Studying HSPB8 or the CASA autophagy complex?
Check out our growing MFM13 Library of research papers & case studies!

🔗 buff.ly/3geLAsI

#MFM13 #Myopathy #HSPB8

Join The Registry By completing the patient registry, you provide invaluable information about the symptoms and progression of MFM13 myopathy, that cannot be obtained otherwise. Data collected is crucial in…

Patient data is one of our most powerful tools. Do you know someone affected by #HSPB8 myopathy? Ask them to join our patient registry: buff.ly/ZFXFAGq

#PatientRegistry #MyopathyResearch #PatientAdvocacy #Join-The-Registry

ZNF33B facilitates Japanese encephalitis virus replication by controlling HSPB1/8-mediated SUMOylation of nonstructural protein 5 | Journal of Virology Japanese encephalitis virus (JEV) poses a severe global health threat, yet host factors regulating its replication remain poorly understood. Our study identifies ZNF33B as a critical host protein…

🚨 New Publication!
Du et al. (J. Virology) show that HSPB8/HSPB1 regulate SUMOylation during Japanese encephalitis virus replication.
🧬 Beyond MFM13 + CASA, these chaperones are also play role in host–pathogen interactions.
👉 buff.ly/N1tSkuL
#HSPB8 #Virology

🧬 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

📢 Zainab Amin et al. (Magnetic Resonance in Chemistry, 2025) show how stressors modulate HSPB8’s monomer–dimer balance.
🧬 Beyond chaperone function, HSPB8 emerges as a therapeutic target in cancer.

👉 link to full article buff.ly/I89i5ue
#HSPB8 #CancerResearch

We’re thrilled to announce a new collaboration with IIMCB Warsaw 🧬 to develop a mouse model of MFM13. Carrying the HSPB8 mutation that causes C-terminal extension, this model will be key for uncovering disease mechanisms and testing future therapies. #RareDisease #HSPB8 #IIMCB

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

HSPB8 Myopathy Explore detailed clinical insights on HSPB8 Myopathy, a progressive condition affecting adults in their 20s to 40s. Learn about key symptoms, genetic testing, disease management, histological…

🧪 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

HSPB8 Myopathy Explore the latest research on HSPB8 Myopathy, an ultra-rare genetic disorder caused by HSPB8 gene mutations. Discover key academic groups and delve into the molecular mechanisms, including toxic…

#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

Podcast Hosting Made Easy - Start a Podcast Today | RSS.com With RSS.com, your podcast will get better visibility, better transcripts, better sound, better features, better support and a better price.

🎙️ New episode out now!
Ep. 6: We break down how frameshift mutations in the #HSPB8 gene cause #MFM13—a rare muscle #disease.
We also dive into lab tools, disease models, and key differences and similarities to HSPB8-related neuropathies and other Myofibrillar Myopathies.
🎧 Listen:

Panels Relevant disorders: R169 Version 1.3

🧬 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

Search - Health in Code Through ClientSite you can filter variants and download your reports

🧬 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

EP 5: Journal Club: HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies | Podcast Episode on RSS.com Episode 5 – Tedesco et al. 2023: Molecular Insights into HSPB8In this episode, we dive into the 2023 study by Tedesco et al., titled "HSPB8 frameshift mutant aggregates weaken chaperone-assisted…

🎙️ New Podcast! Episode 5 available now!
We break down Tedesco et al. 2023 – a study from the Timmerman & Poletti groups showing how #HSPB8 frameshift mutations impair #autophagy (CASA) and cause toxic aggregates in #MFM13.
🎧 Listen here:https://buff.ly/JoLJzIH
#RareDisease #Neuromuscular #CASA #BAG3

🧬 MFM13 is now listed on UniProt as a disease variant linked to mutation in the HSPB8 gene.
Another step toward to better recognition and awareness of this ultra-rare HSPB8-related myopathy.
🔗 See section Disease&Variants on Uniprot
#MFM13 #HSPB8 #Uniprot #Myopathy