Cure MFM13
@curemfm13.bsky.social
A patent-driven charitable project, united by a common cause: to address the challenges of MFM13
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Cure MFM13
@curemfm13.bsky.social
· Oct 6
curemfm13.org
Cure MFM13 is the only charitable project dedicated to overcoming challenges of MFM13
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Cure HSPB8 is now Cure MFM13! 📢
The disease we focus on has been officially named Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13) in OMIM, and we’re updating our name to reflect that recognition.
🌍 Same mission, stronger identity.
🔗 Learn more:
The disease we focus on has been officially named Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13) in OMIM, and we’re updating our name to reflect that recognition.
🌍 Same mission, stronger identity.
🔗 Learn more:
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.
🔹 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.
February 9, 2026 at 6:02 PM
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.
🔹 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).
February 5, 2026 at 6:06 PM
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
February 2, 2026 at 6:02 PM
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
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
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.
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January 30, 2026 at 6:03 PM
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
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
buff.ly/btSbWAh
HSP22 reduces diabetic cardiomyopathy by inhibition oxidative stress and inflammation - PubMed
Heat shock protein 22 (HSP22) can reduce type 2 diabetes mellitus (T2DM) induced vascular endothelial injury by inhibition of inflammation and oxidative stress. Therefore, we explored whether HSP22…
pubmed.ncbi.nlm.nih.gov
January 27, 2026 at 6:04 PM
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
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.
January 22, 2026 at 6:02 PM
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!
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!
buff.ly
January 19, 2026 at 6:03 PM
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!
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:
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:
Chevauchement génétique entre neuropathies et myopathies : vers une convergence des deux entités | médecine/sciences
médecine/sciences (M/S), revue internationale dans le domaine de la recherche biologique, médicale et en santé
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January 16, 2026 at 6:03 PM
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:
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
👉 Full article
Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy
HSPB8 variants cause myopathy, distal motor neuropathy, and Charcot-Marie-Tooth disease. We describe 2 patients who expand the molecular and pathologic spectrum of HSPB8 disorder. We reviewed…
buff.ly
January 13, 2026 at 6:02 PM
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
👉 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
Check out our latest blog post to learn more about our year → buff.ly/XFlkSxw
#MFM13 #2025 #NewYearSummary
January 8, 2026 at 6:04 PM
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
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 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
January 5, 2026 at 6:03 PM
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 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!
December 31, 2025 at 6:00 PM
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
#PatientRegistry #MyopathyResearch #PatientAdvocacy #Join-The-Registry
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…
buff.ly
December 29, 2025 at 6:02 PM
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
#PatientRegistry #MyopathyResearch #PatientAdvocacy #Join-The-Registry
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
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
December 15, 2025 at 6:00 PM
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
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
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
December 4, 2025 at 6:04 PM
🔬 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
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
🔬 MFM13 vs. other HSPB8 diseases
dHMN is caused by HSPB8 missense mutations like K141N or K141T. It leads to progressive distal motor weakness and atrophy.
🔍 Unlike MFM13 (a primary muscle disease), dHMN is axonal—motor nerve damage comes first.
🧪 Diagnosis: symptoms, nerve studies + HSPB8 testing
dHMN is caused by HSPB8 missense mutations like K141N or K141T. It leads to progressive distal motor weakness and atrophy.
🔍 Unlike MFM13 (a primary muscle disease), dHMN is axonal—motor nerve damage comes first.
🧪 Diagnosis: symptoms, nerve studies + HSPB8 testing
December 1, 2025 at 6:02 PM
🔬 MFM13 vs. other HSPB8 diseases
dHMN is caused by HSPB8 missense mutations like K141N or K141T. It leads to progressive distal motor weakness and atrophy.
🔍 Unlike MFM13 (a primary muscle disease), dHMN is axonal—motor nerve damage comes first.
🧪 Diagnosis: symptoms, nerve studies + HSPB8 testing
dHMN is caused by HSPB8 missense mutations like K141N or K141T. It leads to progressive distal motor weakness and atrophy.
🔍 Unlike MFM13 (a primary muscle disease), dHMN is axonal—motor nerve damage comes first.
🧪 Diagnosis: symptoms, nerve studies + HSPB8 testing
Huge thanks to @rareatives for featuring our story! 💙
“What started in isolation has become a community — CureMFM13.”
Their article highlights our mission to support patients with MFM13, connect families, and accelerate research.
Read it here:
“What started in isolation has become a community — CureMFM13.”
Their article highlights our mission to support patients with MFM13, connect families, and accelerate research.
Read it here:
CureMFM13: How a Rare Disease Diagnosis Built a Community
Todd fought for years to get a diagnosis. Now, alongside his team at Cure MFM13, he’s working to build a community, advance research, and work towards a world free from MFM 13.
buff.ly
November 26, 2025 at 6:03 PM
Huge thanks to @rareatives for featuring our story! 💙
“What started in isolation has become a community — CureMFM13.”
Their article highlights our mission to support patients with MFM13, connect families, and accelerate research.
Read it here:
“What started in isolation has become a community — CureMFM13.”
Their article highlights our mission to support patients with MFM13, connect families, and accelerate research.
Read it here:
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
Low HSPB8 levels promote growth via PI3K–AKT–mTOR signaling.
Read the full article here → 📖 buff.ly/SgGOApa
#HSPB8 #CancerResearch #MFM13
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 ...
buff.ly
November 24, 2025 at 6:03 PM
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
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
📖
HSPB8 was identified among key genes linked to immune protection via tertiary lymphoid structures.
#HSPB8 #MFM13 #HeatShockProteins #CancerResearch
📖
buff.ly
November 21, 2025 at 6:01 PM
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
📖
HSPB8 was identified among key genes linked to immune protection via tertiary lymphoid structures.
#HSPB8 #MFM13 #HeatShockProteins #CancerResearch
📖
Learn how changes to #Medicare, #Medicaid and the #ACA could affect access to affordable health care in @nordrare webinar, “Stay Covered: Open Enrollment Essentials for Rare Disease Families,” Nov. 19 at 2 p.m. ET: bit.ly/4nUYIEm
#OpenEnrollment #RareDisease #RareDiseases #HealthInsurance
#OpenEnrollment #RareDisease #RareDiseases #HealthInsurance
Welcome! You are invited to join a webinar: Stay Covered: Open Enrollment Essentials for Rare Disease Families. After registering, you will receive a confirmation email about joining the webinar.
Health Insurance is changing …are you ready? Join us on November 19 at 2:00PM EST for a webinar to help members of the rare disease community understand what to look for during open enrollment. We…
bit.ly
November 18, 2025 at 1:30 PM
Learn how changes to #Medicare, #Medicaid and the #ACA could affect access to affordable health care in @nordrare webinar, “Stay Covered: Open Enrollment Essentials for Rare Disease Families,” Nov. 19 at 2 p.m. ET: bit.ly/4nUYIEm
#OpenEnrollment #RareDisease #RareDiseases #HealthInsurance
#OpenEnrollment #RareDisease #RareDiseases #HealthInsurance
🧬 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
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
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…
buff.ly
November 14, 2025 at 6:01 PM
🧬 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
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
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
November 11, 2025 at 6:02 PM
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
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
Check out our growing MFM13 Library of research papers & case studies!
🔗 buff.ly/3geLAsI
#MFM13 #Myopathy #HSPB8
Library
buff.ly
November 6, 2025 at 6:00 PM
Studying HSPB8 or the CASA autophagy complex?
Check out our growing MFM13 Library of research papers & case studies!
🔗 buff.ly/3geLAsI
#MFM13 #Myopathy #HSPB8
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!
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!
November 3, 2025 at 6:01 PM
🎉 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!
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!