NEW POST: Empty spaces & unwanted freedom: The end of caring. @catrionamoore.bsky.social wrote in March of the death of her daughter, Amy, who had #RettSyndrome. Today, she explains the aftermath of loss when your life has been structured around their care www.specialneedsjungle.com/e...
April 30, 2025 at 5:03 AM
NEW POST: Empty spaces & unwanted freedom: The end of caring. @catrionamoore.bsky.social wrote in March of the death of her daughter, Amy, who had #RettSyndrome. Today, she explains the aftermath of loss when your life has been structured around their care www.specialneedsjungle.com/e...
#DMCNPodcast
Speech, language, social communication, and communication assessments in #RettSyndrome
www.youtube.com/watch?v=WsVj...
Speech, language, social communication, and communication assessments in #RettSyndrome
www.youtube.com/watch?v=WsVj...
October 1, 2026 at 2:02 PM
#DMCNPodcast
Speech, language, social communication, and communication assessments in #RettSyndrome
www.youtube.com/watch?v=WsVj...
Speech, language, social communication, and communication assessments in #RettSyndrome
www.youtube.com/watch?v=WsVj...
Fijne Klaas iedereen! Willemijn is Pret Piet vandaag! #rett #rettsyndrome #rettsyndroom #sinterklaas
December 5, 2024 at 7:39 PM
Fijne Klaas iedereen! Willemijn is Pret Piet vandaag! #rett #rettsyndrome #rettsyndroom #sinterklaas
Very satisfying to see progress on #RNAediting efficiencies. Also >50% in #RettSyndrome program. Just 2 years ago, 1-3% were top hits without ADAR overexpression.
#ProQR
#ProQR
May 13, 2025 at 10:00 AM
Very satisfying to see progress on #RNAediting efficiencies. Also >50% in #RettSyndrome program. Just 2 years ago, 1-3% were top hits without ADAR overexpression.
#ProQR
#ProQR
On SNJ Today: @catrionamoore.bsky.social writes of the empty spaces & unwanted freedom from days structured by caring for her beloved daughter Amy, who recently died, age 17. She celebrates Amy's brilliance at thriving in life despite her #RareDisease #RettSyndrome: www.specialneedsjungle.com/e...
April 30, 2025 at 6:05 PM
On SNJ Today: @catrionamoore.bsky.social writes of the empty spaces & unwanted freedom from days structured by caring for her beloved daughter Amy, who recently died, age 17. She celebrates Amy's brilliance at thriving in life despite her #RareDisease #RettSyndrome: www.specialneedsjungle.com/e...
🌿 Following treatment, two-thirds of the cohort exhibited a greater than 50% reduction in seizure frequency. #NORML #cannabis #marijuana #rettsyndrome #epilepsy #cbd
CBD Reduces Seizures in Pediatric Patients With Rett Syndrome
Study participants used FDA-approved CBD formulation Epidiolex
norml.org
September 18, 2025 at 8:22 PM
🌿 Following treatment, two-thirds of the cohort exhibited a greater than 50% reduction in seizure frequency. #NORML #cannabis #marijuana #rettsyndrome #epilepsy #cbd
Changing my profile photo to a maple leaf for a while(🇨🇦), so uploading a photo of myself with our beautiful granddaughter this past Christmas so people know I'm a real account.
#teamcanada #rettsyndrome
#teamcanada #rettsyndrome
January 19, 2025 at 4:33 PM
Changing my profile photo to a maple leaf for a while(🇨🇦), so uploading a photo of myself with our beautiful granddaughter this past Christmas so people know I'm a real account.
#teamcanada #rettsyndrome
#teamcanada #rettsyndrome
Highly decorated British #geneticist Professor Adrian Bird will open #BNA2025 with his plenary lecture on #RettSyndrome. This session is convened and supported by @sidb-edinburgh.bsky.social.
Early bird discounted registration closing this month -⌛https://meetings.bna.org.uk/bna2025/
Early bird discounted registration closing this month -⌛https://meetings.bna.org.uk/bna2025/
January 15, 2025 at 3:26 PM
Highly decorated British #geneticist Professor Adrian Bird will open #BNA2025 with his plenary lecture on #RettSyndrome. This session is convened and supported by @sidb-edinburgh.bsky.social.
Early bird discounted registration closing this month -⌛https://meetings.bna.org.uk/bna2025/
Early bird discounted registration closing this month -⌛https://meetings.bna.org.uk/bna2025/
#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
#rarediseases
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.
www.rettsyndrome.org
February 14, 2026 at 1:58 AM
#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
#rarediseases
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...
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...
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…
pintofscience.fr
March 30, 2026 at 7:51 AM
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...
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...
#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...
November 23, 2025 at 7:17 PM
#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...
#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...
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...
January 5, 2026 at 11:01 AM
#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...
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...
🌟 Learn about the pivotal role of MeCP2 in epigenetic regulation with the latest research from Prof. Shixin Liu’s lab! Explore the dynamic world of MeCP2 in our latest digest! Get the full story: https://buff.ly/40WY5CD
#MeCP2 #RettSyndrome #Epigenetics #SingleMolecule #CTrap
#MeCP2 #RettSyndrome #Epigenetics #SingleMolecule #CTrap
November 21, 2024 at 10:03 AM
🌟 Learn about the pivotal role of MeCP2 in epigenetic regulation with the latest research from Prof. Shixin Liu’s lab! Explore the dynamic world of MeCP2 in our latest digest! Get the full story: https://buff.ly/40WY5CD
#MeCP2 #RettSyndrome #Epigenetics #SingleMolecule #CTrap
#MeCP2 #RettSyndrome #Epigenetics #SingleMolecule #CTrap
Kid is 24 this week. We had a bad sacre in the spring, but we are gearing up for another orbit round the sun. #rettsyndrome
November 12, 2023 at 6:37 PM
Kid is 24 this week. We had a bad sacre in the spring, but we are gearing up for another orbit round the sun. #rettsyndrome
🌿 Oral administration of cannabis extracts for 12 weeks was associated with significant improvements in symptoms, "including mental alertness, communication skills, socialization/eye contact, attentiveness, and anxiety," researchers reported. #NORML #cannabis #marijuana #rettsyndrome
Cannabis Extracts Improve Symptoms in Children with Rett Syndrome
Alertness, communication, socialization, attentiveness, and anxiety
norml.org
July 22, 2025 at 3:03 PM
🌿 Oral administration of cannabis extracts for 12 weeks was associated with significant improvements in symptoms, "including mental alertness, communication skills, socialization/eye contact, attentiveness, and anxiety," researchers reported. #NORML #cannabis #marijuana #rettsyndrome
📢 We are recruiting an M2 Master's student for a 6-month internship (Jan. 2027) in my lab at @sppin-cnrs.bsky.social @cnrs.fr | @upcite.bsky.social .
The project focuses on developing optimized molecular therapies for #RettSyndrome. Details are in the attached description. Please share!
The project focuses on developing optimized molecular therapies for #RettSyndrome. Details are in the attached description. Please share!
July 10, 2026 at 2:40 PM
📢 We are recruiting an M2 Master's student for a 6-month internship (Jan. 2027) in my lab at @sppin-cnrs.bsky.social @cnrs.fr | @upcite.bsky.social .
The project focuses on developing optimized molecular therapies for #RettSyndrome. Details are in the attached description. Please share!
The project focuses on developing optimized molecular therapies for #RettSyndrome. Details are in the attached description. Please share!
Rett syndrome is a rare disorder mainly affecting girls, causing severe cognitive and physical impairments after initially normal development.
More Info: www.rettsyndrome.org #rettsyndrome
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
More Info: www.rettsyndrome.org #rettsyndrome
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
April 26, 2025 at 2:04 PM
Rett syndrome is a rare disorder mainly affecting girls, causing severe cognitive and physical impairments after initially normal development.
More Info: www.rettsyndrome.org #rettsyndrome
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
More Info: www.rettsyndrome.org #rettsyndrome
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
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
#RettSyndrome #Neuroscience #Genetics #MECP2 #ScienceMatters #JaenischLab #YoungLab
Rett syndrome is a neurodevelopmental disorder caused by mutations in the protein MECP2. A new review from the Jaenisch lab details the multifaceted role played by MECP2 in neuronal gene regulation: www.nature.com/articles/s41... @natrevneuro.nature.com
Exploring the complexity of MECP2 function in Rett syndrome - Nature Reviews Neuroscience
Mutations in the gene encoding the methyl-DNA-binding protein MECP2 cause Rett syndrome. Jaenisch and colleagues here provide an overview of our current understanding of the mechanisms by which MECP2 ...
www.nature.com
May 14, 2025 at 9:45 PM
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
#RettSyndrome #Neuroscience #Genetics #MECP2 #ScienceMatters #JaenischLab #YoungLab
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
UCLA Broad Stem Cell Research Center | ISSCR
September 30, 2025 at 2:00 PM
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
UCLA Broad Stem Cell Research Center | ISSCR
# 🧠💤 New research reveals surprising sleep patterns in Rett syndrome
Our latest study found something unexpected: it's not just about sleeping less - it's about sleeping at the wrong times.
pubmed.ncbi.nlm.nih.gov/40607160/
#RettSyndrome #SleepResearch #Neuroscience #RareDisease #Chronotherapy
Our latest study found something unexpected: it's not just about sleeping less - it's about sleeping at the wrong times.
pubmed.ncbi.nlm.nih.gov/40607160/
#RettSyndrome #SleepResearch #Neuroscience #RareDisease #Chronotherapy
Loss of MeCP2 leads to sleep deficits that are time-of-day dependent and worsen with sleep deprivation - PubMed
Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (<i>MECP2</i>). Sleep problems are frequently re...
pubmed.ncbi.nlm.nih.gov
July 14, 2025 at 11:01 PM
# 🧠💤 New research reveals surprising sleep patterns in Rett syndrome
Our latest study found something unexpected: it's not just about sleeping less - it's about sleeping at the wrong times.
pubmed.ncbi.nlm.nih.gov/40607160/
#RettSyndrome #SleepResearch #Neuroscience #RareDisease #Chronotherapy
Our latest study found something unexpected: it's not just about sleeping less - it's about sleeping at the wrong times.
pubmed.ncbi.nlm.nih.gov/40607160/
#RettSyndrome #SleepResearch #Neuroscience #RareDisease #Chronotherapy
Alltrna scientists presented at #RNA25 and the 2025 IRSF #RettSyndrome Scientific Meeting on our advancement of #tRNA as a new therapeutic modality to treat diseases caused by the same underlying mutation.
Thanks to our team for their outstanding work!
#StopCodonDisease #RNAsky
Thanks to our team for their outstanding work!
#StopCodonDisease #RNAsky
June 25, 2025 at 2:49 PM
Alltrna scientists presented at #RNA25 and the 2025 IRSF #RettSyndrome Scientific Meeting on our advancement of #tRNA as a new therapeutic modality to treat diseases caused by the same underlying mutation.
Thanks to our team for their outstanding work!
#StopCodonDisease #RNAsky
Thanks to our team for their outstanding work!
#StopCodonDisease #RNAsky
🚨 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
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
October 8, 2025 at 5:30 PM
🚨 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
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
About 6k-9k people in the US have Rett Syndrome. I'd never heard of it until my cousin's granddaughter Skylar was diagnosed with it. This is a video of her and her bestfriend Ella. Im hoping it helps spread awareness
#RettSyndrome #RareDisorder
youtu.be/W2FGLB-fa7Y?...
#RettSyndrome #RareDisorder
youtu.be/W2FGLB-fa7Y?...
Nonspeaking Best Friends with the Same Rare Syndrome (Rett)
YouTube video by Special Books by Special Kids
youtu.be
September 26, 2026 at 7:20 PM
About 6k-9k people in the US have Rett Syndrome. I'd never heard of it until my cousin's granddaughter Skylar was diagnosed with it. This is a video of her and her bestfriend Ella. Im hoping it helps spread awareness
#RettSyndrome #RareDisorder
youtu.be/W2FGLB-fa7Y?...
#RettSyndrome #RareDisorder
youtu.be/W2FGLB-fa7Y?...
“Enabling brain delivery will not only be crucial for treating #RettSyndrome, a devastating condition that almost exclusively affects girls and women, but for a wide-range of brain disorders.” – @jenniferdoudna.bsky.social on a new gift from @rsrt.bsky.social
Read more: ow.ly/PVSy50UACMH
🧬 🧠
Read more: ow.ly/PVSy50UACMH
🧬 🧠
IGI is Awarded New Funding to Develop CRISPR Tools for Editing the Brain
A new project co-led by IGI founder Jennifer Doudna and Doudna lab researcher Kai Chen has been awarded $1.25 million from the Rett Syndrome Research Trust (RSRT) to develop CRISPR tools to edit the b...
ow.ly
January 21, 2025 at 8:27 PM
“Enabling brain delivery will not only be crucial for treating #RettSyndrome, a devastating condition that almost exclusively affects girls and women, but for a wide-range of brain disorders.” – @jenniferdoudna.bsky.social on a new gift from @rsrt.bsky.social
Read more: ow.ly/PVSy50UACMH
🧬 🧠
Read more: ow.ly/PVSy50UACMH
🧬 🧠
EMA recommends three new medicines and an orphan treatment for rare Rett Syndrome
#CHMP #EMA #Pharmaceuticals #CSLSeqirus #Parkinsons #RettSyndrome
#CHMP #EMA #Pharmaceuticals #CSLSeqirus #Parkinsons #RettSyndrome
EMA recommends three new medicines and an orphan treatment for rare Rett Syndrome
#CHMP #EMA #Pharmaceuticals #CSLSeqirus #Parkinsons #RettSyndrome
www.vitalsigns.news/ema-recommen...
#CHMP #EMA #Pharmaceuticals #CSLSeqirus #Parkinsons #RettSyndrome
www.vitalsigns.news/ema-recommen...
EMA recommends three new medicines and an orphan treatment for rare Rett Syndrome
EMA’s human medicines committee (CHMP) recommended six medicines for approval at its June 2026 meeting
www.vitalsigns.news
June 29, 2026 at 12:02 PM
EMA recommends three new medicines and an orphan treatment for rare Rett Syndrome
#CHMP #EMA #Pharmaceuticals #CSLSeqirus #Parkinsons #RettSyndrome
#CHMP #EMA #Pharmaceuticals #CSLSeqirus #Parkinsons #RettSyndrome