Réparer, explorer : le cerveau en action Venez explorer les mystères du cerveau ! Des thérapies géniques à la réalité virtuelle, Nicolas et Pascale vous montreront comment les scientifiques étudie…

Speaking at @pintofscience.fr #Pint26 on May 18th !

I’ll be discussing about #Rettsyndrome, how too little or too much of #MECP2 disrupts (too many) brain functions and how gene therapies can benefit from self-regulated systems.

More info at :

pintofscience.fr/event/repare...

"RESEARCH GIVES US HOPE FOR VALENTINA"
@cmccormack91.bsky.social for Edinburgh Evening News

An #Edinburgh girl will need "round-the-clock care" after she was diagnosed with #RettSyndrome, a rare condition that affects 1 in 10,000 girls.

#EdinburghEveningNews
#TomorrowsPapersToday
#IBPAPERS

Boosting a key brain protein could help treat Rett syndrome Researchers have discovered a new way to increase a key brain protein damaged in Rett syndrome, a rare genetic disorder that affects thousands of children worldwide. Early studies in mice and patient-...

A new gene-targeting strategy that boosts a critical brain protein may offer a future path toward treating #RettSyndrome. From H Zoghbi lab, @harinipt6 et al @bcmhouston.bsky.social @bcmgenetics.bsky.social #ScienceTM @rettsyndrome.bsky.social www.sciencedaily.com/releases/202...

`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.`

www.science.org/doi/10.1126/scitranslmed...

#Rett #RettSyndrome #geneTherapy #antisense

A potential new approach for treating Rett syndrome This work lays the foundation and provides preclinical evidence for a therapeutic approach for Rett syndrome that increases MeCP2 and confers functional improvement.

#RettSyndrome is a neurodevelopmental condition more common in girls than boys, for which there is no treatment. But a new study by the Zoghbi lab et al shows a new path that may lead to therapies. @bcmhouston.bsky.social @bcmgenetics.bsky.social #SciTranslMed blogs.bcm.edu/2026/03/05/f...

A promising potential therapeutic strategy for Rett syndrome A team of researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital reports...

The H Zoghbi lab et al provide evidence for new approach to treat #RettSyndrome. @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social s.bsky.social @rsrt.bsky.social www.bcm.edu/news/a-promi...

. @mit.edu neuroscientists have found that either of two genetic mutations that cause #RettSyndrome undermine the structural integrity of developing blood vessels.

🔭 Abstract from Drs. Tatsuya Osaki and Mriganka Sur: https://go.nature.com/3ODvNce
🗞️ Press release: https://bit.ly/4rc64Vz

Its Rare Disease Day®! Yesterday at #RDDNIH, we shared outcomes from our #CME initiative on #RettSyndrome. In partnership with @nordrare.bsky.social & @rettsyndrome.bsky.social, we highlighted how patient-centered education supports clinicians across diagnosis, treatment, & care. 🔗 bit.ly/4snliIB

From Rett and Pitt-Hopkins to ALS: 5 Rare Diseases UC San Diego Researchers are Tackling in the Lab This Rare Disease Day (February 28, 2026), read on to learn more about five orphan conditions, the people they affect and the UC San Diego Sanford Stem Cell Institute researchers fanning the flames of hope for patients around the globe.

.Sanford Stem Cell Institute UC San Diego is working to find cures for rare diseases, including #ALS and #RettSyndrome. Chemistry professor Alexis Komor's work in base editing is already healing sick children. https://bit.ly/4ufC2Dt #RareDiseaseDay #GeneTherapy

Overactive MicroRNA Triggers Leaky Brain in Rett Syndrome - Neuroscience News Neuroscientists discover that Rett syndrome mutations cause a leaky brain via overexpressed miRNA-126-3p, pointing to a new therapeutic target for vascular repair.

Overactive #MicroRNA Triggers Leaky Brain in #RettSyndrome
#Autism #Genetics #Neuroscience

A Phase 4 study shows the effectiveness and tolerability of #trofinetide for individuals with #Rettsyndrome
onlinelibrary.wiley.com/doi/10.1111/...

About Rett Syndrome | International Rett Syndrome Foundation Learn what Rett Syndrome is, how it’s diagnosed, and what it means for those who live with it.

#RettSyndrome is a rare and devastating neurodevelopmental disorder that impacts ... ability to speak, walk, eat, and even breathe. Symptoms can begin as early as 6 mos old when parents begin to see their child miss development milestones and lose abilities they had already gained."
#rarediseases

We're heading to #RDDNIH to share outcomes from a #CME initiative on #RettSyndrome, highlighting patient-centered & outcomes-driven design to help close gaps in #RareDisease care. 🌟

Stay tuned for poster details & explore rare disease programs here: bit.ly/3Mq3SM3

@nordrare.bsky.social & IRSF

Longitudinal analysis in Mecp2-het female mice reveals atypical nociceptive behaviours - Journal of Molecular Medicine Abstract Rett Syndrome (RTT), a neurodevelopmental disorder predominantly affecting females, is characterised by evolving symptoms impacting motor and sensory domains. Herein, we present a study of lo...

📖Accede al artículo completo:

Cuitavi, J., Martínez-Rodríguez, E., Abellán-Álvaro, M. et al. Longitudinal analysis in Mecp2-het female mice reveals atypical nociceptive behaviours. J Mol Med 104, 28 (2026). doi.org/10.1007/s001...

#Rettsyndrome

#DMCNPodcast

Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study

#Rettsyndrome #Rett #trofinetide
www.youtube.com/watch?v=Dmun...

#Rettsyndrome is a severe neurodevelopmental disorder that predominantly affects girls, constituting one of the most common genetic causes of intellectual disability in females. https://www.nature.c

Building Coordinated Care Pathways for Rett Syndrome: A Call to Action in Europe

We are pleased to invite you to the 𝗥𝗲𝘁𝘁 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲 𝗣𝗼𝗹𝗶𝗰𝘆 𝗙𝗼𝗿𝘂𝗺, dedicated to improving care coordination for individuals living with #RettSyndrome.

☑️Register to attend: events.crai.com/socialrettsy...

Women’s Health: October Rett Syndrome Awareness Month | Watch News Videos Online Watch Women’s Health: October Rett Syndrome Awareness Month Video Online, on GlobalNews.ca

🔍 October marks Rett Syndrome Awareness Month—take a moment to learn about this rare condition and how families navigate it. 💜

Watch the story from Global News → globalnews.ca/video/114947...

#RettSyndrome #RareDiseaseAwareness #Inclusion

sn-RNA-seq analysis of wild-type and RTT rat brain. Nuclei were isolated from brains of wild-type rats and transgenic rats with loss of MECP2. (A) 10× single-cell RNA sequencing was performed, and single-cell profiles were obtained. (B) Gene expression profiles were plotted with UMAP, and several different neuronal subtypes were identified in various clusters as indicated. (C) A plot of DEGs between wild-type (WT) and RTT (MT) rat brain. (D) Plotted are the number of DEGs (upregulated and downregulated) in each neuronal subtype.

Abril Morales & co demonstrate that neurons lacking MECP2 show signs of elevated DNA damage and senescence transcriptional signatures, which could contribute to phenotypes in patients with Rett syndrome. doi.org/10.1242/dmm....

#RettSyndrome #DNADamage

🎦 Now available: Leading experts share strategies to recognize Rett syndrome early, apply new therapies, manage symptoms, and strengthen collaboration for better care.

🔗 Watch now 👉 bit.ly/3VJAfXd

#RettSyndrome #CME

🚨 Buscamos técnico/a para solicitar la ayuda PTA 2025 (@AgEInves) en la @uv_es
Proyecto: Pain & Epilepsy in Rett Syndrome: Insights from #Mouse and #Zebrafish
📅 Candidaturas: 8–15/10/2025
📧 maria.abellan@uv.es | jose.vicente.torres@uv.es
#PTA2025 #RettSyndrome #Neurociencia

Excited to join the 37th National Rett Syndrome Days by @afsr.bsky.social in Paris, Oct 11–12. I’ll discuss about “Regulation of MECP2 Transport & Expression: Innovative Paths for Rett Syndrome". More info at jnsr.afsr.fr #RettSyndrome #Research #RettSyndromeAwarenessMonth

Φωταγωγείται ο Φάρος στο Ενετικό Λιμάνι Χανίων για την Παγκόσμια Ημέρα Ευαισθητοποίησης για το Σύνδρομο Rett - CRETA24 ΚΡΗΤΗ - Ο Δήμος Χανίων, σε συνεργασία με το Δημοτικό Λιμενικό Ταμείο Χανίων και τον Σύλλογο Reverse Rett Greece, συμμετέχει στην πανελλαδική εκστρατεία ενημέρωσης

The 1839 #Chania #Lihthouse on #Crete, #Greece, will be illuminated in purple light for World #RettSyndrome Awareness Day on Saturday, October 18.

#φάρος #Ελλάδα #Κρήτη #Χανιά

NEWS You Might Have Missed
@rettsyndrome_valentina
@rettsyndromemass
@seizurestalk
@timetotalkaboutepilepsy
#rettsyndrome #seizures #healthcare #mmj #mmjpatient #community #education #usa #patient #health #well #patientcare #care

#Rett #sydrome is rare and affects 1 out of 10,000 children.
#Rettsyndromeawareness
#Rettsyndromeawarenessmonth
#Rettsyndrome

💜 October is Rett Syndrome Awareness Month

🗓️ Oct 8: Hear from experts on emerging therapies, managing key symptoms, and team based strategies to improve patient centered care.

🔗 Register 👉 bit.ly/4816OHv

#RettSyndromeAwarenessMonth #RettSyndrome #CME

New study from @uclamcdb.bsky.social shows MECP2 loss in #Rettsyndrome neurons triggers DNA damage & senescence via #PARP1 dysregulation. Restoring PARP1 reverses neuronal defects; potential therapeutic target https://ow.ly/guLJ50X4k2P

UCLA Broad Stem Cell Research Center | ISSCR

A heartfelt day at the Rett Syndrome Ride or Stride 2025 with our @mojganrastegar.bsky.social Lab team. Proud to contribute to awareness and community support for families and research. 💜 #RettSyndrome #RideOrStride

CBD Reduces Seizures in Pediatric Patients With Rett Syndrome Study participants used FDA-approved CBD formulation Epidiolex

🌿 Following treatment, two-thirds of the cohort exhibited a greater than 50% reduction in seizure frequency. #NORML #cannabis #marijuana #rettsyndrome #epilepsy #cbd

A new study by Mriganka Sur's lab shows benefits, but also limits, of environmental enrichment for Rett syndrome mice: onlinelibrary.wiley.com/doi/10.1002/... #rettsyndrome #neuroscience #neurology #research
@mitbcs.bsky.social