#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 Study Uncovers the Hidden #Genetic Cascade Behind #RettSyndrome

https://scitechdaily.com/new-study-uncovers-the-hidden-genetic-cascade-behind-rett-syndrome/

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

Multisite clinical trial will compare three FDA-approved drugs including ketamine for Rett syndrome treatment - SCIENMAG https://apple.news/AlQ_hWGe6Q-eyORPwzFZx_A #ketamine #psychedelic #Rettsyndrome

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

Debut drug for Rett syndrome at edge of approval

https://www.spectrumnews.org/news/debut-drug-for-rett-syndrome-at-edge-of-approval/

#fragileXsyndrome #Rettsyndrome #mousemodels #treatments #autism #DSM-IV #MECP2 #News

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

That was a night to forget...

#RettSyndrome #disability #SeizuresSuck #SleepDeprivation

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

Progress. A only woke once last night at 2 ish. She was hard to settle but after I winged my way through telling a story (just off the top of my head - couldn't risk putting the light on) she drifted off. Phew. Unfortunately I was pretty awake but I think I grabbed an hour in the end.

Morning
#LearningDisability #RettSyndrome #SETD5Syndrome #SleepDisorders

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

School just phoned. A slept nearly all afternoon, then woke just in for the Wellbeing lady to give her a little aromatherapy massage before hometime. If only all schools were this flexible #RettSyndrome #SETD5Syndrome #Disability #LearningDifficulties #epilepsy

This is a beautiful piece of writing from Catriona Moore https://makingchromosomescount.co.uk/2022/11/14/just-the-way-she-is-rett-syndrome/

Shifting from doing to being - solid way for all of us to live by IMO

"Slowing down to make the world work better for Amy has made it work better for me too. I love her company and her reactions to things, and the way she lights up when something really delights her. She has shown me the value of simply being here, together".

#RettSyndrome #LearningDisability

Our daughter A, who has 2 rare syndromes and complex needs, has been living her best life out with her wonderful PA this evening #RettSyndrome #SETD5Syndrome #DisabilityMstdn #LearningDisability #Autism