#rettsyndrome — Public Fediverse posts

`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

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

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

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

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

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders. https://doi.org/10.3390/cells12101437 #RettSyndrome #AtypicalRttSyndrome #RettSyndromeLikePhenotype #MethylCpgBindingProtein2 #NeurodevelopmentalDisorders

FDA approval of trofinetide may spur further drug development for Rett

https://www.spectrumnews.org/news/fda-approval-of-trofinetide-may-spur-further-drug-development-for-rett/

#Rettsyndrome #mousemodels #treatments #autism #MECP2 #News

Happy #MedicineMonday! The #FDA just approved the first treatment for #RettSyndrome, a rare, genetic, neurological disorder affecting brain development. This condition affects about 1:10,000 females, males to a far rarer extent and leads to a loss of language and motor skills developed earlier in life.

The medication Daybue (trofinetide) is for people 2 or older, delivered orally or via gastrostomy tube.

#DrugDevelopment #RareDisease

Going on Trial: Orphan drugs; CBD; bumetanide

https://www.spectrumnews.org/news/going-on-trial-orphan-drugs-cbd-bumetanide/

#inhibitorysignaling #fragileXsyndrome #clinicaltrials #Rettsyndrome #genetherapy #mousemodels #funding #autism #22q11 #MECP2 #News #FMR1

Biotech downturn hurts companies targeting autism-linked conditions

https://www.spectrumnews.org/news/biotech-downturn-hurts-companies-targeting-autism-linked-conditions/

#clinicaltrials #Rettsyndrome #funding #autism #News

Epigenome edits unmute MECP2 in Rett-like neurons

https://www.spectrumnews.org/news/epigenome-edits-unmute-mecp2-in-rett-like-neurons/

#Rettsyndrome #genetherapy #mousemodels #autism #MECP2 #News

Asleep in the Mouse House with Graham Diering

https://www.spectrumnews.org/news/profiles/asleep-in-the-mouse-house-with-graham-diering/

#Phelan-McDermidsyndrome #Rettsyndrome #mousemodels #Profiles #synapses #autism #SHANK3 #sleep

A bit niche, but I'm looking for people in the #RettSyndrome #SETD5Syndrome #Autism #LearningDisability #Epilepsy community. Our daughter has all of the above. Would love to meet fellow #ParentCarer #UnpaidCarer folks

How star cells’ secretions may stunt neurons: Q&A with Nicola Allen

https://www.spectrumnews.org/opinion/how-star-cells-secretions-may-stunt-neurons-qa-with-nicola-allen/

#fragileXsyndrome #Rettsyndrome #astrocytes #synapses #Opinion #autism #QA

RNA rewrite improves breathing, survival in Rett mice

https://www.spectrumnews.org/news/rna-rewrite-improves-breathing-survival-in-rett-mice/

#Rettsyndrome #genetherapy #mousemodels #autism #MECP2 #News

Portrait of a research field: astrocytes in autism

https://www.spectrumnews.org/features/deep-dive/portrait-of-a-research-field-astrocytes-in-autism/

#excitatorysignaling #inhibitorysignaling #signalingimbalance #fragileXsyndrome #postmortembrains #geneexpression #Rettsyndrome #environment #mousemodels #astrocytes #organoids #DeepDive #seizures #synapses #autism #MECP2 #FMR1 #FMRP #GABA

Pinning hope to ketamine

https://www.spectrumnews.org/features/deep-dive/pinning-hope-to-ketamine/

#antidepressants #Rettsyndrome #depression #treatments #DeepDive #anxiety #autism

Faulty inhibition foils long-term memory in Rett mice

https://www.spectrumnews.org/news/faulty-inhibition-foils-long-term-memory-in-rett-mice/

#excitatorysignaling #inhibitorysignaling #learningandmemory #neuralcircuits #Rettsyndrome #hippocampus #mousemodels #learning #seizures #autism #MECP2 #News

Silenced X chromosome genes reawaken in new mouse model

https://www.spectrumnews.org/news/toolbox/silenced-x-chromosome-genes-reawaken-in-new-mouse-model/

#Rettsyndrome #mousemodels #Xchromosome #treatments #Toolbox #autism #MECP2

Protein complex points to new route to Rett syndrome

https://www.spectrumnews.org/news/protein-complex-points-to-new-route-to-rett-syndrome/

#Rettsyndrome #mousemodels #autism #MECP2 #News

Real-world data on Rett syndrome: Q&A with Jana von Hehn

https://www.spectrumnews.org/opinion/real-world-data-on-rett-syndrome-qa-with-jana-von-hehn/

#clinicaltrials #rarevariants #Rettsyndrome #treatments #Opinion #autism #MECP2 #QA

Hollis Cline: Leapfrogging over gaps in autism research

https://www.spectrumnews.org/news/profiles/hollis-cline-leapfrogging-over-gaps-in-autism-research/

#fragileXsyndrome #brainimaging #Rettsyndrome #Profiles #autism #MECP2 #FMR1

Meet the ‘mitomaniacs’ who say mitochondria matter in autism

https://www.spectrumnews.org/features/deep-dive/meet-the-mitomaniacs-who-say-mitochondria-matter-in-autism/

#intellectualdisability #fragileXsyndrome #oxidativestress #mitochondria #Rettsyndrome #mousemodels #metabolism #treatments #diagnosis #stemcells #DeepDive #synapses #autism #CRISPR #FMR1 #PTEN

Dispatches from SfN 2021: Mitochondria, Rett therapy and oxytocin

https://www.spectrumnews.org/news/dispatches-from-sfn-2021-mitochondria-rett-therapy-and-oxytocin/

#Prader-Willisyndrome #synapticplasticity #Angelmansyndrome #geneexpression #socialdeficits #connectivity #mitochondria #Rettsyndrome #mousemodels #treatments #15q11-13 #autism #SHANK3 #MECP2 #SCN2A #UBE3A #News #ANK2 #sex

Gene therapy for rare form of autism may treat another

https://www.spectrumnews.org/news/gene-therapy-for-rare-form-of-autism-may-treat-another/

#Rettsyndrome #genetherapy #astrocytes #autism #MECP2 #News

Brain stimulation improves memory in autism mouse models

https://www.spectrumnews.org/news/brain-stimulation-improves-memory-in-autism-mouse-models/

#inhibitorysignaling #connectivitytheory #synapticplasticity #learningandmemory #neuralcircuits #connectivity #Rettsyndrome #hippocampus #News #GABA

The push to screen newborns for rare autism-linked genetic conditions

https://www.spectrumnews.org/news/the-push-to-screen-newborns-for-rare-autism-linked-genetic-conditions/

#whole-genomesequencing #Prader-Willisyndrome #Angelmansyndrome #fragileXsyndrome #genetictesting #spokenversion #Rettsyndrome #sequencing #diagnosis #autism #News #ADNP

Huda Zoghbi: Taking genetic inquiry to the next level

https://www.spectrumnews.org/news/huda-zoghbi-taking-genetic-inquiry-to-the-next-level/

#learningandmemory #neuralcircuits #spokenversion #Rettsyndrome #motorskills #mousemodels #Xchromosome #treatments #Profiles #autism #memory #videos #MECP2 #News

Alternative gene-therapy approaches take aim at Rett syndrome

https://www.spectrumnews.org/news/alternative-gene-therapy-approaches-take-aim-at-rett-syndrome/

#spokenversion #Rettsyndrome #genetherapy #Xchromosome #mosaicism #autism #MECP2 #News