🎙️ New Episode Alert! | Journal Club #10
We dive into Inoue & Weihl (2025) and the redefinition of myofibrillar myopathies as “Z-disk-opathies.”
New genetics, disease mechanisms & what it means for diagnosis and therapies.
We are happy to share that we’ve been awarded a bursary to attend the International Drug Repurposing Conference, co-organized by @REMEDi4ALL & @RareBeacon for Rare Diseases (Brussel, Belgium)
We are looking forward to contributing and learning from this experience.
#REMEDI4ALL #BEACON
New Publication Alert!
Ziemian et al. explore the molecular basis of myopathies & muscular dystrophies, highlighting importance of precision medicine, gene-based therapies, and novel biomarkers in patient care
Full publication here:
The first comprehensive review of MFM13 is now out - bringing together all current knowledge about this ultra-rare myopathy in one place.
Co-authored with Wenli Zhou, Veronica Marchesi, Barbara Tedesco & Angelo Poletti.
🔗 Read:
We are proud to share that Sylwia Szwec, our Research Program Manager, has successfully defended her doctoral thesis on Therapeutic Approaches for Treatment of Duchenne Muscular Dystrophy at Uniwersytet im. Adama Mickiewicza w Poznaniu.
Huge congratulations Dr. Szwec! #PhD
We’re excited to share that we’ll be attending the World Orphan Drug Congress in Boston.
It was a fantastic experience last year, and we’re looking forward to reconnecting, learning, and meeting new people in the rare disease community.
#WODC #CUREMFM13
Happy Easter from Cure MFM13! 🌷🐣
Wishing you peace, hope, and moments of joy this beautiful season.
Thank you for being part of our community!
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
HSPB8 beyond MFM13 function!
Piccolella M., et al., published new article, entitled "FAK signaling pathways are modulated by HSPB8 and BAG3 in breast cancer"!
Check out full publication buff.ly/c6bOwtd to learn more about HSPB8 functions in breast cancer.
We’re heading to Warsaw on March 12–13 for two events;
- Science That Saves Lives. How Are Breakthrough Therapies Created?
- Science. Patients. Therapies.
Featuring Professor Victor Ambros, Nobel Prize laureate and discoverer of microRNA.
Looking forward to start conversations.
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
HSPB8 roles beyond MFM13!
The new publication by Jami KM., Murray DT., et al., 2026, buff.ly/Fa3GtLQ, presents protective role of HSPB8 in neurodegenerative diseases.
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
Inoue and Weihl propose redefining Myofibrillar Myopathies (MFMs) as a “Z-disk-opathies,” underlying importance of Z-disk structural proteins disruption as common phenotype across "true MFMs".
Check out the details buff.ly/ybwCzxh and let us know what you think about such reclassification.
New Podcast (Ep. 9 ) is available now!!
EP 9: Journal Club: Yang et al., 2024 | New Insights Into a Pediatric Case of MFM13 buff.ly/rkn5ZLz
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
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.
We’re proud to share that Dr. Barbara Tedesco presented her work, “Unveiling novel players in HSPB8 pathology,” at the Plenary Session “Basic Science and the Many Faces of CMT” during the 2nd European CMT Specialists Conference in Antwerp (Oct 2025).
We’re pleased to introduce Prof. Angelo Poletti, Full Professor of Experimental Biology at the University of Milan and a leading expert whose work has significantly advanced MFM13 research. We’re grateful to be working together to drive progress in the field. buff.ly/eDKiilg
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 study by Yu et al. (Nanchang Univ., China) reveals a protective role of HSPB8 in type 2 diabetes. HSPB8 reduces oxidative stress and inflammation, improving diabetic cardiomyopathy in mice.
buff.ly/btSbWAh
HSPB8 is a member of the small heat shock protein (sHSP) family and is also known as HSP22, H11 kinase, or protein kinase H11.
MFM13 is now listed in the MalaCards Human Disease Database!
MalaCards is a comprehensive resource with disease info, genetics, symptoms & more.
Check out MFM13 in the database here.
Listing it helps raise awareness & increase visibility!
New Publication Alert
Tanya Stojkovic & Marc Bitoun explore the genetic overlap between neuropathies and myopathies, highlighting shared genes like HSPB8 (MFM13) and key diagnostic implications.
👉 Broader gene panels matter.
Read more:
Putko et al. (MyoClinic Rochester, Milone lab) report 2 new HSPB8 cases, expanding the molecular & pathologic spectrum of HSPB8 myopathy/distal motor neuropathy. The study highlights including HSPB8 in genetic testing across ages.
👉 Full article
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
We had a great end-of-year meeting just before the holidays. We’re heading into 2026 with determination and hope!
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