ACTA2 Alliance
@acta2alliance.bsky.social
Supporting families living with Multisystemic Smooth Muscle Dysfunction Syndrome #MSMDS #UltraRare #ACTA2 mutation https://www.zeffy.com/en-US/donation-form/6944a133-de97-4680-8675-ad6847c2d369
Docs normally avoid hypotensive agents and AV node blockers (also calcium channel blockers) in MSMDS: poor cerebral autoregulation= ⬆️ risk of syncope and stroke.
Hypotensive agents prevent patients with MSMDS from increasing their heart rate when needed.
#ACTA2
www.nature.com/articles/s41...
Hypotensive agents prevent patients with MSMDS from increasing their heart rate when needed.
#ACTA2
www.nature.com/articles/s41...
Calcium channel blockers increase the risk of aortic aneurysm and dissection - Nature Communications
Aortic aneurysm and dissection are lethal vascular diseases lacking effective medical therapy. Here the authors show that calcium channel blocker use increases AAD risk, worsens disease progression in...
www.nature.com
January 22, 2026 at 12:50 PM
Docs normally avoid hypotensive agents and AV node blockers (also calcium channel blockers) in MSMDS: poor cerebral autoregulation= ⬆️ risk of syncope and stroke.
Hypotensive agents prevent patients with MSMDS from increasing their heart rate when needed.
#ACTA2
www.nature.com/articles/s41...
Hypotensive agents prevent patients with MSMDS from increasing their heart rate when needed.
#ACTA2
www.nature.com/articles/s41...
Research update! A recently article in @jci.org study shows that GI dysmotility in MSMDS is driven mainly by smooth muscle dysfunction, not by gut nerves. These findings open the door to mechanism-based and genome editing therapies to restore gut function. #ACTA2
🔗 insight.jci.org/articles/vie...
🔗 insight.jci.org/articles/vie...
January 19, 2026 at 6:17 PM
Research update! A recently article in @jci.org study shows that GI dysmotility in MSMDS is driven mainly by smooth muscle dysfunction, not by gut nerves. These findings open the door to mechanism-based and genome editing therapies to restore gut function. #ACTA2
🔗 insight.jci.org/articles/vie...
🔗 insight.jci.org/articles/vie...
A Christmas gift from our kids to you 🎄 Many languages, many smiles, one shared wish.
Help it travel far, and let’s wish together for a 2026 with effective treatments for children with MSMDS.
✨
#ACTA2 #MSMDS #SmoothMuscle
Help it travel far, and let’s wish together for a 2026 with effective treatments for children with MSMDS.
✨
#ACTA2 #MSMDS #SmoothMuscle
December 20, 2025 at 3:55 PM
A Christmas gift from our kids to you 🎄 Many languages, many smiles, one shared wish.
Help it travel far, and let’s wish together for a 2026 with effective treatments for children with MSMDS.
✨
#ACTA2 #MSMDS #SmoothMuscle
Help it travel far, and let’s wish together for a 2026 with effective treatments for children with MSMDS.
✨
#ACTA2 #MSMDS #SmoothMuscle
What an amazing community we have! $10K+ raised since Nov 24 for MSMDS and ACTA2 research 🎉
If you’d like to be part of the final push in 2025, we’d welcome it 🤗
www.acta2alliance.org/support_MSMD...
#ACTA2 #RareDisease #SmoothMuscle
If you’d like to be part of the final push in 2025, we’d welcome it 🤗
www.acta2alliance.org/support_MSMD...
#ACTA2 #RareDisease #SmoothMuscle
December 18, 2025 at 7:02 PM
What an amazing community we have! $10K+ raised since Nov 24 for MSMDS and ACTA2 research 🎉
If you’d like to be part of the final push in 2025, we’d welcome it 🤗
www.acta2alliance.org/support_MSMD...
#ACTA2 #RareDisease #SmoothMuscle
If you’d like to be part of the final push in 2025, we’d welcome it 🤗
www.acta2alliance.org/support_MSMD...
#ACTA2 #RareDisease #SmoothMuscle
It’s #GivingTuesday. If you’d like to support MSMDS/ACTA2 research, our Year-End campaign is open. Your help keeps studies moving: www.zeffy.com/en-US/donati... #ACTA2 #MSMDS
December 2, 2025 at 10:13 AM
It’s #GivingTuesday. If you’d like to support MSMDS/ACTA2 research, our Year-End campaign is open. Your help keeps studies moving: www.zeffy.com/en-US/donati... #ACTA2 #MSMDS
‼️The ACTA2 & MSMDS Literature Library has been updated with the latest research articles. If you know of any information missing, please send it our way so we can add it.
docs.google.com/spreadsheets...
#ACTA2 #MSMDS #RareDisease #Research
docs.google.com/spreadsheets...
#ACTA2 #MSMDS #RareDisease #Research
November 7, 2025 at 10:20 AM
‼️The ACTA2 & MSMDS Literature Library has been updated with the latest research articles. If you know of any information missing, please send it our way so we can add it.
docs.google.com/spreadsheets...
#ACTA2 #MSMDS #RareDisease #Research
docs.google.com/spreadsheets...
#ACTA2 #MSMDS #RareDisease #Research
We’ve had a busy September, where we also found time to raise awareness. One of our founders, Dixie Anderson, shared her story on Bedford TV, a reminder of why this work matters.🎥 Watch it here www.youtube.com/watch?v=rile... #MSMDS #ACTA2 #UltraRare #RareDiseaseAwareness #RareDisease #Massachusetts
Celebrate Life - Lydia Anderson
YouTube video by Bedford TV, MA
www.youtube.com
October 9, 2025 at 2:32 PM
We’ve had a busy September, where we also found time to raise awareness. One of our founders, Dixie Anderson, shared her story on Bedford TV, a reminder of why this work matters.🎥 Watch it here www.youtube.com/watch?v=rile... #MSMDS #ACTA2 #UltraRare #RareDiseaseAwareness #RareDisease #Massachusetts
To the researchers & clinicians working tirelessly on this: THANK YOU 💜🩵💜
And to our community: you also have the chance to be part of this journey. By supporting research, you help discoveries like this one move closer to real treatments. This is how: bit.ly/MSMDS-Resear...
And to our community: you also have the chance to be part of this journey. By supporting research, you help discoveries like this one move closer to real treatments. This is how: bit.ly/MSMDS-Resear...
Shape the future of MSMDS Research
Welcome to the ACTA2 Alliance Foundation. We invite you to be part of a historic medical breakthrough for Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), an ultra-rare genetic disease affect...
bit.ly
September 12, 2025 at 1:14 PM
To the researchers & clinicians working tirelessly on this: THANK YOU 💜🩵💜
And to our community: you also have the chance to be part of this journey. By supporting research, you help discoveries like this one move closer to real treatments. This is how: bit.ly/MSMDS-Resear...
And to our community: you also have the chance to be part of this journey. By supporting research, you help discoveries like this one move closer to real treatments. This is how: bit.ly/MSMDS-Resear...
We feel proud, grateful, and hopeful 💜
✨ Proud of how far this journey has come
✨ Grateful to researchers & clinicians leading the way
✨ Hopeful because we are getting closer to therapies our children need
✨ Proud of how far this journey has come
✨ Grateful to researchers & clinicians leading the way
✨ Hopeful because we are getting closer to therapies our children need
September 12, 2025 at 1:13 PM
We feel proud, grateful, and hopeful 💜
✨ Proud of how far this journey has come
✨ Grateful to researchers & clinicians leading the way
✨ Hopeful because we are getting closer to therapies our children need
✨ Proud of how far this journey has come
✨ Grateful to researchers & clinicians leading the way
✨ Hopeful because we are getting closer to therapies our children need
This is more than a step forward for MSMDS.
It’s a proof of concept that our rare disease can lead the way to treatments for other severe vascular diseases, like Moyamoya.
#vasculardiseases
It’s a proof of concept that our rare disease can lead the way to treatments for other severe vascular diseases, like Moyamoya.
#vasculardiseases
September 12, 2025 at 1:13 PM
This is more than a step forward for MSMDS.
It’s a proof of concept that our rare disease can lead the way to treatments for other severe vascular diseases, like Moyamoya.
#vasculardiseases
It’s a proof of concept that our rare disease can lead the way to treatments for other severe vascular diseases, like Moyamoya.
#vasculardiseases
Using a custom-built CRISPR–Cas9 base editor, researchers corrected the ACTA2 mutation in a mouse model, prolonging survival and rescuing disease features in the brain, aorta & blood vessels.
September 12, 2025 at 1:12 PM
Using a custom-built CRISPR–Cas9 base editor, researchers corrected the ACTA2 mutation in a mouse model, prolonging survival and rescuing disease features in the brain, aorta & blood vessels.
Back in June, at our MSMDS conference, we shared how researchers were advancing their work on gene editing for ACTA2 R179H.
Today, we can celebrate that this effort is now peer-reviewed & published in @nature.com! 🎉
t.co/6WjTMRnAOi
#MSMDS #ACTA2 @markelindsay.bsky.social @bkleinstiver.bsky.social
Today, we can celebrate that this effort is now peer-reviewed & published in @nature.com! 🎉
t.co/6WjTMRnAOi
#MSMDS #ACTA2 @markelindsay.bsky.social @bkleinstiver.bsky.social
https://bit.ly/gene_therapy_R179H
t.co
September 12, 2025 at 1:12 PM
Back in June, at our MSMDS conference, we shared how researchers were advancing their work on gene editing for ACTA2 R179H.
Today, we can celebrate that this effort is now peer-reviewed & published in @nature.com! 🎉
t.co/6WjTMRnAOi
#MSMDS #ACTA2 @markelindsay.bsky.social @bkleinstiver.bsky.social
Today, we can celebrate that this effort is now peer-reviewed & published in @nature.com! 🎉
t.co/6WjTMRnAOi
#MSMDS #ACTA2 @markelindsay.bsky.social @bkleinstiver.bsky.social
September is a fresh start but for Riley, it means rehab post brain surgery, 1 yr after her first TIA. Read more: facebook.com/profile.php?...
To make revascularization safer for kids with MSMDS, docs/families reach out with your experience to msmds@acta2alliance.org
#ACTA2 #StrokeAwareness #TIAs
To make revascularization safer for kids with MSMDS, docs/families reach out with your experience to msmds@acta2alliance.org
#ACTA2 #StrokeAwareness #TIAs
Redirecting...
facebook.com
September 11, 2025 at 12:57 PM
September is a fresh start but for Riley, it means rehab post brain surgery, 1 yr after her first TIA. Read more: facebook.com/profile.php?...
To make revascularization safer for kids with MSMDS, docs/families reach out with your experience to msmds@acta2alliance.org
#ACTA2 #StrokeAwareness #TIAs
To make revascularization safer for kids with MSMDS, docs/families reach out with your experience to msmds@acta2alliance.org
#ACTA2 #StrokeAwareness #TIAs
Reposted by ACTA2 Alliance
🫀🧬 Calling cardiologists & CVGCs! Phase I of my PhD interviewed 27 experts on medical & family history guiding genetic testing & best practices. Phase II: Delphi survey to build consensus. All experience levels welcome! Complete the intake form if interested: forms.office.com/r/UwMzwUFUGL
September 11, 2025 at 12:50 AM
🫀🧬 Calling cardiologists & CVGCs! Phase I of my PhD interviewed 27 experts on medical & family history guiding genetic testing & best practices. Phase II: Delphi survey to build consensus. All experience levels welcome! Complete the intake form if interested: forms.office.com/r/UwMzwUFUGL
For #VascularDiseaseAwarenessMonth we shed light on ACTA2 mutations. They weaken vessels, causing strokes & dissections. 👨👩👧👦ACTA2 Alliance supports families & research and has now join the UK’s Vascular Voice Network vascularvoice.org💜 to make our voices stronger, together.
September 11, 2025 at 8:50 AM
For #VascularDiseaseAwarenessMonth we shed light on ACTA2 mutations. They weaken vessels, causing strokes & dissections. 👨👩👧👦ACTA2 Alliance supports families & research and has now join the UK’s Vascular Voice Network vascularvoice.org💜 to make our voices stronger, together.
🧬 The MSMDS Patient Registry is live!
Built with families, experts & @SanfordResearch, it’s a powerful step to advance research & care.
Join, share, and learn more: www.acta2alliance.org/multisystemi...
#MSMDS #ACTA2 #PatientRegistry
Built with families, experts & @SanfordResearch, it’s a powerful step to advance research & care.
Join, share, and learn more: www.acta2alliance.org/multisystemi...
#MSMDS #ACTA2 #PatientRegistry
July 8, 2025 at 6:45 PM
🧬 The MSMDS Patient Registry is live!
Built with families, experts & @SanfordResearch, it’s a powerful step to advance research & care.
Join, share, and learn more: www.acta2alliance.org/multisystemi...
#MSMDS #ACTA2 #PatientRegistry
Built with families, experts & @SanfordResearch, it’s a powerful step to advance research & care.
Join, share, and learn more: www.acta2alliance.org/multisystemi...
#MSMDS #ACTA2 #PatientRegistry
Reposted by ACTA2 Alliance
Vessels of the brain🧠 are enveloped by alpha-smooth muscle actin that have a rubber-band like appearance. These bands contract or dilate based on the neural load.
@urneuroscience.bsky.social @cvsuor.bsky.social @flaumeye.bsky.social @uofrbme.bsky.social #FluorescenceFriday
@urneuroscience.bsky.social @cvsuor.bsky.social @flaumeye.bsky.social @uofrbme.bsky.social #FluorescenceFriday
May 23, 2025 at 4:58 PM
Vessels of the brain🧠 are enveloped by alpha-smooth muscle actin that have a rubber-band like appearance. These bands contract or dilate based on the neural load.
@urneuroscience.bsky.social @cvsuor.bsky.social @flaumeye.bsky.social @uofrbme.bsky.social #FluorescenceFriday
@urneuroscience.bsky.social @cvsuor.bsky.social @flaumeye.bsky.social @uofrbme.bsky.social #FluorescenceFriday
Very happy to be part of this initiative in the UK!
‼️Must follow for vascular health specialists around the globe.
#VascularHealth #Vascular #CommunityGrowth
‼️Must follow for vascular health specialists around the globe.
#VascularHealth #Vascular #CommunityGrowth
💚 📣 We've launched the Vascular Voice Network landing page 📣 💚
vascularvoice.org
Visit our webpage and join us on our journey to connect organisations and individuals across the wider vascular community 🟢.
@acta2alliance.bsky.social @aorticdissectct.bsky.social @ehlersdanlos.bsky.social
vascularvoice.org
Visit our webpage and join us on our journey to connect organisations and individuals across the wider vascular community 🟢.
@acta2alliance.bsky.social @aorticdissectct.bsky.social @ehlersdanlos.bsky.social
Vascular Voice Network
Connecting patients, charities, clinicians, researchers, and system leaders around the shared goal of improving care for people with vascular conditions.
vascularvoice.org
July 2, 2025 at 9:53 AM
Very happy to be part of this initiative in the UK!
‼️Must follow for vascular health specialists around the globe.
#VascularHealth #Vascular #CommunityGrowth
‼️Must follow for vascular health specialists around the globe.
#VascularHealth #Vascular #CommunityGrowth
The 2025 MSMDS Conference recordings are live on YouTube!
📼Watch, learn, and share: bit.ly/2025Conferen...
#ACTA2 #MSMDS #RareDisease #GeneticDisease #VascularDisease #PediatricStroke #AorticDissection #Mydriasis
📼Watch, learn, and share: bit.ly/2025Conferen...
#ACTA2 #MSMDS #RareDisease #GeneticDisease #VascularDisease #PediatricStroke #AorticDissection #Mydriasis
July 2, 2025 at 9:51 AM
The 2025 MSMDS Conference recordings are live on YouTube!
📼Watch, learn, and share: bit.ly/2025Conferen...
#ACTA2 #MSMDS #RareDisease #GeneticDisease #VascularDisease #PediatricStroke #AorticDissection #Mydriasis
📼Watch, learn, and share: bit.ly/2025Conferen...
#ACTA2 #MSMDS #RareDisease #GeneticDisease #VascularDisease #PediatricStroke #AorticDissection #Mydriasis