Early clinical programs are testing CRISPR-based approaches for rare neurological diseases, including MECP2 duplication syndrome and Duchenne muscular dystrophy
September 26, 2026 at 7:20 PM
Early clinical programs are testing CRISPR-based approaches for rare neurological diseases, including MECP2 duplication syndrome and Duchenne muscular dystrophy
Kevin Mitchell @wiringthebrain.bsky.social talks with Huda Zoghbi about her work identifying the #MECP2 gene, its role in the brain and therapies to address its dysfunction. @bcmhouston.bsky.social @bcmgenetics.bsky.social www.thetransmitter.org/spectrum/fin...
Finding the Rett syndrome gene and ways to fix it
Kevin Mitchell talks with Huda Zoghbi about her work finding the MECP2 gene, dissecting the role it plays in the brain, and developing new therapies.
www.thetransmitter.org
September 25, 2026 at 1:53 PM
Kevin Mitchell @wiringthebrain.bsky.social talks with Huda Zoghbi about her work identifying the #MECP2 gene, its role in the brain and therapies to address its dysfunction. @bcmhouston.bsky.social @bcmgenetics.bsky.social www.thetransmitter.org/spectrum/fin...
QUE NOS HAN DADO EL PROYECTO, Y ADEMÁS NOS HAN DADO UN CONTRATO FPI!!!
Quién quiere hacer una tesis en un proyecto titulado:
Mechanisms and therapeutic modulation of protracted neuronal maturation in Mecp2-mutant mice
Somos un grupillo de gente muy maja, comprometida con las enfermedades raras 😊
Quién quiere hacer una tesis en un proyecto titulado:
Mechanisms and therapeutic modulation of protracted neuronal maturation in Mecp2-mutant mice
Somos un grupillo de gente muy maja, comprometida con las enfermedades raras 😊
me acaba de salir un video de diana morant diciendo ayer que van a publicar la resolución de la convocatoria de proyectitos
de investigación y dónde están esos proyectos que yo los vea
de investigación y dónde están esos proyectos que yo los vea
July 15, 2026 at 8:29 AM
QUE NOS HAN DADO EL PROYECTO, Y ADEMÁS NOS HAN DADO UN CONTRATO FPI!!!
Quién quiere hacer una tesis en un proyecto titulado:
Mechanisms and therapeutic modulation of protracted neuronal maturation in Mecp2-mutant mice
Somos un grupillo de gente muy maja, comprometida con las enfermedades raras 😊
Quién quiere hacer una tesis en un proyecto titulado:
Mechanisms and therapeutic modulation of protracted neuronal maturation in Mecp2-mutant mice
Somos un grupillo de gente muy maja, comprometida con las enfermedades raras 😊
@wiringthebrain.bsky.social talks with Huda Zoghbi about her work identifying the MECP2 gene, dissecting the role it plays in the brain, and developing new therapies.
www.thetransmitter.org/spectrum/fin...
www.thetransmitter.org/spectrum/fin...
Finding the Rett syndrome gene and ways to fix it
Kevin Mitchell talks with Huda Zoghbi about her work finding the MECP2 gene, dissecting the role it plays in the brain, and developing new therapies.
www.thetransmitter.org
September 21, 2026 at 3:00 PM
@wiringthebrain.bsky.social talks with Huda Zoghbi about her work identifying the MECP2 gene, dissecting the role it plays in the brain, and developing new therapies.
www.thetransmitter.org/spectrum/fin...
www.thetransmitter.org/spectrum/fin...
My student, Grace Stroman, was selected to present at the 9th Chromatin and Epigenetics Symposium. Her presentation was exceptional! Our keynote speaker @grewalsh.bsky.social was brilliant! Thanks to the organizers, @unclineberger.bsky.social, and @brianstrahl.bsky.social for a remarkable meeting!
March 14, 2026 at 5:27 PM
My student, Grace Stroman, was selected to present at the 9th Chromatin and Epigenetics Symposium. Her presentation was exceptional! Our keynote speaker @grewalsh.bsky.social was brilliant! Thanks to the organizers, @unclineberger.bsky.social, and @brianstrahl.bsky.social for a remarkable meeting!
Check out our most recent preprint where we describe Mecp2 as a régulatrice of cGAS-STING associated signaling. 🧪🔥
The methyl-CpG-binding protein 2 inhibits cGAS-associated signaling https://www.biorxiv.org/content/10.1101/2025.01.30.635818v1
February 5, 2025 at 7:48 PM
Check out our most recent preprint where we describe Mecp2 as a régulatrice of cGAS-STING associated signaling. 🧪🔥
An RNA editing strategy #CRISPR rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates
www.nature.com/articles/s41...
www.nature.com/articles/s41...
An RNA editing strategy rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates - Nature Neuroscience
Duplication of the MECP2 gene (encoding methyl-CpG-binding protein 2) causes MECP2 duplication syndrome. Here the authors develop a Cas13Y system capable of targeting the MECP2 mRNA for degradation an...
www.nature.com
December 19, 2024 at 11:58 AM
An RNA editing strategy #CRISPR rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates
www.nature.com/articles/s41...
www.nature.com/articles/s41...
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 4:53 PM
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
Check out our latest preprint on #Mecp2 and #microglia. Thanks to @jovitope.bsky.social! www.researchsquare.com/article/rs-6...
Altered microglial plasticity in the periaqueductal grey of adolescent Mecp2-heterozygous mice following early-life stress
Rett syndrome (RTT), a severe neurodevelopmental disorder primarily affecting girls, is commonly caused by MECP2 loss-of-function mutations. Key symptoms include motor impairments, typical hand stereo...
www.researchsquare.com
April 22, 2025 at 1:56 PM
Check out our latest preprint on #Mecp2 and #microglia. Thanks to @jovitope.bsky.social! www.researchsquare.com/article/rs-6...
Our Research Reveals How MECP2 Deficiency (associated with Rett Syndrome) Alters Sleep Patterns is out!. From our team at @wsunews.bsky.social Sleep and Performance Research Center, supported by @simonsfoundation.org Autism Research Initiative www.biorxiv.org/content/10.1...
www.biorxiv.org
April 20, 2025 at 8:12 PM
Our Research Reveals How MECP2 Deficiency (associated with Rett Syndrome) Alters Sleep Patterns is out!. From our team at @wsunews.bsky.social Sleep and Performance Research Center, supported by @simonsfoundation.org Autism Research Initiative www.biorxiv.org/content/10.1...
Fluorescence Friday! Layer 2/3 neuron (backfilled with biocytin during ephys recording, pink), Mecp2 (cyan) and DAPI (white) in a female Rett syndrome model mouse brain. #neuroscience
September 1, 2023 at 8:54 PM
Fluorescence Friday! Layer 2/3 neuron (backfilled with biocytin during ephys recording, pink), Mecp2 (cyan) and DAPI (white) in a female Rett syndrome model mouse brain. #neuroscience
Aquí podéis ver mi charla en #NaukasBilbao25.
Hablo de neuronas viejóvenes, de controversia entre grupos de investigación, y, por supuesto, de #Rett y #Mecp2
www.youtube.com/watch?v=OnQA...
Hablo de neuronas viejóvenes, de controversia entre grupos de investigación, y, por supuesto, de #Rett y #Mecp2
www.youtube.com/watch?v=OnQA...
NAUKAS BILBAO 2025: Carmen Agustín Pavón - Neuronas viejóvenes
YouTube video by eitb
www.youtube.com
September 24, 2025 at 1:37 PM
Aquí podéis ver mi charla en #NaukasBilbao25.
Hablo de neuronas viejóvenes, de controversia entre grupos de investigación, y, por supuesto, de #Rett y #Mecp2
www.youtube.com/watch?v=OnQA...
Hablo de neuronas viejóvenes, de controversia entre grupos de investigación, y, por supuesto, de #Rett y #Mecp2
www.youtube.com/watch?v=OnQA...
Hi Bluesky! I am a #MolecularNeuroscience PI at the #SPPIN
www.sppin.fr (CNRS/Université Paris Cité). My lab studies the roles of #importins #nucleartransport factors in #neuronalfunctions and #MeCP2 related #neurodevelopmental #disorders. More info on the website: www.sppin.fr/the-teams/te...
www.sppin.fr (CNRS/Université Paris Cité). My lab studies the roles of #importins #nucleartransport factors in #neuronalfunctions and #MeCP2 related #neurodevelopmental #disorders. More info on the website: www.sppin.fr/the-teams/te...
The teams -SPPIN - CNRS UMR 8003
SPPIN - CNRS UMR 8003 - Saint-Pères PARIS Institute for the Neuroscience
www.sppin.fr
November 17, 2024 at 10:59 AM
Hi Bluesky! I am a #MolecularNeuroscience PI at the #SPPIN
www.sppin.fr (CNRS/Université Paris Cité). My lab studies the roles of #importins #nucleartransport factors in #neuronalfunctions and #MeCP2 related #neurodevelopmental #disorders. More info on the website: www.sppin.fr/the-teams/te...
www.sppin.fr (CNRS/Université Paris Cité). My lab studies the roles of #importins #nucleartransport factors in #neuronalfunctions and #MeCP2 related #neurodevelopmental #disorders. More info on the website: www.sppin.fr/the-teams/te...
www.rollingstone.com/politics/pol...
They're TRANSGENIC mice, not "transgender mice" and are super important for all kinds of genetic research, including researching and testing a potential cure for my son's condition: MECP2 Duplication Syndrome. Without transgenic mice that would never be possible.
They're TRANSGENIC mice, not "transgender mice" and are super important for all kinds of genetic research, including researching and testing a potential cure for my son's condition: MECP2 Duplication Syndrome. Without transgenic mice that would never be possible.
Trump Decried Millions Spent 'Making Mice Transgender.' It Was Cancer and Asthma Research
President Trump falsely claimed that Biden spent $8 million on 'making mice transgender,' but the real research was for human health.
www.rollingstone.com
March 7, 2025 at 1:24 AM
www.rollingstone.com/politics/pol...
They're TRANSGENIC mice, not "transgender mice" and are super important for all kinds of genetic research, including researching and testing a potential cure for my son's condition: MECP2 Duplication Syndrome. Without transgenic mice that would never be possible.
They're TRANSGENIC mice, not "transgender mice" and are super important for all kinds of genetic research, including researching and testing a potential cure for my son's condition: MECP2 Duplication Syndrome. Without transgenic mice that would never be possible.
🌟 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
New Zoghbi lab MECP2 paper out 🎉: Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome | Science Translational Medicine www.science.org/doi/10.1126/...
Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome
Switching of MECP2-e2 to the more efficiently translated e1 isoform up-regulates MeCP2 protein and rescues deficits in RTT iPSC-derived neurons.
www.science.org
March 5, 2026 at 6:39 PM
New Zoghbi lab MECP2 paper out 🎉: Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome | Science Translational Medicine www.science.org/doi/10.1126/...
Knocking out MECP2 in adult mice triggers alterations in gene regulation and expression weeks before neuronal and behavioral changes arise, a new study finds, revealing the cascade of events that underlie Rett syndrome.
By @chloewilliams.bsky.social
#neuroskyence
By @chloewilliams.bsky.social
#neuroskyence
Molecular changes after MECP2 loss may drive Rett syndrome traits
Knocking out the gene in adult mice triggered up- and down-regulated expression of myriad genes weeks before there were changes in neuronal function.
www.thetransmitter.org
March 20, 2025 at 2:31 PM
Knocking out MECP2 in adult mice triggers alterations in gene regulation and expression weeks before neuronal and behavioral changes arise, a new study finds, revealing the cascade of events that underlie Rett syndrome.
By @chloewilliams.bsky.social
#neuroskyence
By @chloewilliams.bsky.social
#neuroskyence
My son is severely immuno-compromised and has frequent lung infections (due to his condition: MECP2 Duplication Syndrome) so hopefully we can make the case for him to get the vaccine. Most people being unable to get vaccinated means there WILL be more cases - Covid might mutate into something worse.
BREAKING: FDA says covid boosters now only for those over 65 or with preconditions. www.statnews.com/2025/05/20/f...
FDA will limit Covid vaccines to people over 65 or at high risk of serious illness, leaders say
The FDA announced it will limit access to Covid-19 vaccines going forward to people 65 and older and others at high risk of serious illness
www.statnews.com
May 20, 2025 at 3:45 PM
My son is severely immuno-compromised and has frequent lung infections (due to his condition: MECP2 Duplication Syndrome) so hopefully we can make the case for him to get the vaccine. Most people being unable to get vaccinated means there WILL be more cases - Covid might mutate into something worse.
Human MECP2 gene, MeCP2 protein, and common variants in Rett syndrome, a severe, progressive, neurodevelopmental disorder, which affects predominantly females.
https://www.nature.c...
https://www.nature.c...
September 7, 2025 at 8:49 AM
Human MECP2 gene, MeCP2 protein, and common variants in Rett syndrome, a severe, progressive, neurodevelopmental disorder, which affects predominantly females.
https://www.nature.c...
https://www.nature.c...
📰La mutación del gen MECP2, principal causa del #SíndromeDeRett, afecta al desarrollo puberal y las hormonas sexuales en ratones
🔬 @carmenagustin.bsky.social Ana Martín-Sánchez
🏛️ @uv.es @biologiques-uv.bsky.social @uji.es
www.uv.es/uvweb/uv-not...
🔬 @carmenagustin.bsky.social Ana Martín-Sánchez
🏛️ @uv.es @biologiques-uv.bsky.social @uji.es
www.uv.es/uvweb/uv-not...
La mutación del gen MECP2, principal causa del síndrome de Rett, afecta al desarrollo puberal y las hormonas sexuales en ratones
Un equipo de investigación, formado por personal del Departament de Biologia Celul·lar i Biologia Funcional de la Universitat de València (UV)...
www.uv.es
July 21, 2026 at 9:39 AM
📰La mutación del gen MECP2, principal causa del #SíndromeDeRett, afecta al desarrollo puberal y las hormonas sexuales en ratones
🔬 @carmenagustin.bsky.social Ana Martín-Sánchez
🏛️ @uv.es @biologiques-uv.bsky.social @uji.es
www.uv.es/uvweb/uv-not...
🔬 @carmenagustin.bsky.social Ana Martín-Sánchez
🏛️ @uv.es @biologiques-uv.bsky.social @uji.es
www.uv.es/uvweb/uv-not...
Chromatin organization controls nuclear stiffness @cardosolab.bsky.social
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Chromatin organization controls nuclear stiffness
Cellular differentiation is driven by epigenetic modifiers and readers, including the methyl CpG binding protein 2 (MeCP2), whose level and mutations cause the neurological disorder Rett syndrome. Dur...
www.biorxiv.org
September 8, 2025 at 8:14 PM
Chromatin organization controls nuclear stiffness @cardosolab.bsky.social
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
We have received the reports from our advisors on your manuscript, Longitudinal Analysis in Mecp2-het Female Mice Reveals Atypical Nociceptive Behaviours, submitted to
Journal of Molecular Medicine
Based on the advice received, we have decided that your manuscript can be accepted for publication
🥳
Journal of Molecular Medicine
Based on the advice received, we have decided that your manuscript can be accepted for publication
🥳
September 30, 2025 at 7:25 AM
We have received the reports from our advisors on your manuscript, Longitudinal Analysis in Mecp2-het Female Mice Reveals Atypical Nociceptive Behaviours, submitted to
Journal of Molecular Medicine
Based on the advice received, we have decided that your manuscript can be accepted for publication
🥳
Journal of Molecular Medicine
Based on the advice received, we have decided that your manuscript can be accepted for publication
🥳
El nostre últim estudi, que forma part de la tesi de Rafa Esteve, investiga com afecta la manca de #Mecp2 a la maduració d’una població de neurones de l’escorça olfactiva
Investiguen com la mutació del gen MECP2, principal causa de la síndrome de Rett, interfereix en la maduració neuronal
Personal investigador del Departament de Biologia Cel·lular i Biologia Funcional de la Universitat de València ha mostrat que la mutació del gen MECP2 altera la maduració prolongada (durant gran part ...
www.uv.es
December 17, 2025 at 1:15 PM
El nostre últim estudi, que forma part de la tesi de Rafa Esteve, investiga com afecta la manca de #Mecp2 a la maduració d’una població de neurones de l’escorça olfactiva
Celebrating #HHMIInvestigator Huda Zoghbi, recognized by the Lurie Autism Institute for her ground-breaking discovery that mutations in the MECP2 gene cause Rett syndrome (an autism-related neurodevelopmental disorder) — work that continues to transform autism research today: bit.ly/4sFhNx6.
March 12, 2026 at 5:11 PM
Celebrating #HHMIInvestigator Huda Zoghbi, recognized by the Lurie Autism Institute for her ground-breaking discovery that mutations in the MECP2 gene cause Rett syndrome (an autism-related neurodevelopmental disorder) — work that continues to transform autism research today: bit.ly/4sFhNx6.