`These data set the stage for a potential therapeutic strategy using antisense oligonucleotides to promote isoform switching in patients with RTT who carry partially functioning alleles of MECP2.`

https://www.science.org/doi/10.1126/scitranslmed.adq4529

#Rett #RettSyndrome #geneTherapy #antisense

https://www.instagram.com/reel/DVGWNjKDPJk/?igsh=MWZmbTFqaG9zNXdjaQ==

Handiski 2026 is not a “nice activity”.
It’s dignity in motion.

In February, 6 families.
6 girls with Rett syndrome.
3 days in La Bresse.
Full inclusion. Full access. Zero financial barrier.

Ski sessions adapted.
Siblings in ski school.
Parents breathing for once.

This is what inclusion looks like when you stop talking and start funding.

Support the mission 👉 https://alsr.lu
#Handiski #RettSyndrome #Inclusion #DisabilityRights #ALSR

ALSR on Instagram: "This weekend, five of our incredible #rettgirlsgrandduché🇱🇺 proved once again that limits are meant to be challenged💪 High up in the mountains, they were guided by the same amazing @esf_officiel La Bresse monitor team we had last year 🤩 and once again, their care and beautiful spirit made all the difference 🙌 Our girls: They didn’t just ski down a mountain. They showed us that inclusion is real. That sport is powerful. That bravery comes with the biggest smiles 🩷 Rock on 👏 #rettsyndromeawareness #handiski #esflabresse #inclusionsports Handiski powered by @sante.lu"

40 likes, 6 comments - alsr.lu on February 23, 2026: "This weekend, five of our incredible #rettgirlsgrandduché🇱🇺 proved once again that limits are meant to be challenged💪 High up in the mountains, they were guided by the same amazing @esf_officiel La Bresse monitor team we had last year 🤩 and once again, their care and beautiful spirit made all the difference 🙌 Our girls: They didn’t just ski down a mountain. They showed us that inclusion is real. That sport is powerful. That bravery comes with the biggest smiles 🩷 Rock on 👏 #rettsyndromeawareness #handiski #esflabresse #inclusionsports Handiski powered by @sante.lu".

Instagram

Handiski 2026 is not a “charity trip.”

It’s training.
It’s courage.
It’s trust.

Five girls.
Adaptive equipment.
Cold mornings.
Zero excuses.

When you see a wheelchair on snow, you don’t see limits.
You see logistics, teamwork, and pure determination.

We’re preparing.
#Handiski2026 #RettSyndrome #AdaptiveSport #Inclusion

Handiski 2026 is officially loading ❄️

After La Bresse 2025, we’re going back to the mountains with the girls of ALSR.
Skiing. Laughter. Cold air. Real freedom.

For girls living with Rett syndrome, this isn’t “just” a trip.
It’s mobility. Inclusion. Dignity. Joy.

More soon.
#Handiski2026 #RettSyndrome #Inclusion #Luxembourg

How Regaining Full Rights to Rett Syndrome Gene Therapy Has Changed Taysha (TSHA)’s Investment Story

Recently, Taysha Gene Therapies announced it has regained full rights to its lead gene therapy candidate TSHA-102 for…
#NewsBeep #News #Headlines #BreakthroughTherapy #clinicalsignificance #genetherapies #Latvia #LV #regulatoryapproval #regulatorysignificance #Rettsyndrome
https://www.newsbeep.com/193054/

Brilliant work by #WhiteheadInstitute researchers and collaborators unpacking MECP2’s complex role in Rett syndrome - as both a gene activator and repressor. A powerful step toward more targeted therapies. #RettSyndrome #Neuroscience #Genetics #MECP2 #ScienceMatters #JaenischLab #YoungLab

RE: https://bsky.app/profile/did:plc:376brirdwae4fayb4sd3bzdy/post/3lp5hlxwl722j
Bluesky

Bluesky Social

new paper: "Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?" https://doi.org/10.3389/fmed.2024.1425038

"Rett syndrome (RTT) and Rett-like syndromes [i.e., CDKL5 deficiency disorder (CDD) and FOXG1-syndrome] represent rare yet profoundly impactful neurodevelopmental disorders (NDDs). [..] The current landscape of DR efforts in these syndromes is thoroughly examined [..]"

#rettSyndrome #bioinformatics #drugRepurposing

Frontiers | Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

Rett syndrome (RTT) and Rett-like syndromes [i.e., CDKL5 deficiency disorder (CDD) and FOXG1-syndrome] represent rare yet profoundly impactful neurodevelopme...

Frontiers

It seems that a genetic mutation may not have the same physiological effect on different types of cells.

"This shows that in order to understand Rett syndrome, we need to look beyond what's happening in neurons to other cell types," said first study author Danielle Tomasello, PhD.

#genetics #mutation #biology #research #health #medicine #disease #RettSyndrome

https://www.labroots.com/trending/genetics-and-genomics/27738/effects-rett-syndrome-mutations-depend-cell-type

The Effects of Rett Syndrome Mutations Depend on the Cell Type | Genetics And Genomics

The neurodevelomental disease Rett syndrome is usually caused by mutations in a gene called MECP2, which is located on the X chromosome. Patients lose coor | Genetics And Genomics

Labroots

Angry mum says disabled daughter has 'shut down' after water damage left her without bed - Mirror Online
https://www.mirror.co.uk/news/uk-news/angry-mum-says-disabled-daughter-31977516

#Disabilities
#CareHomes
#RettSyndrome
#Glasgow
#HaydaleCareHome
#Scotland

Mum says disabled daughter has 'shut down' after flood left her without bed

Amy Kavanagh, 31, suffers from Rett Syndrome and was left without a bed at Glasgow’s Haydale Care Home after flooding caused water damage to her floor and ceiling

The Mirror