Top Tweets for #Chd8
We aim to improve lives impacted by rare diseases associated with autism by bridging the gap between science & care. We are grateful for the families we work with - you are more than rare, you are amazing. #RareDiseaseDay #ADNP #CHAMP1 #CHD8 #DDX3X #FOXP1 #PhelanMcDermid #SHANK3
Yeray ha sido diagnosticado de síndrome #CHD8, una enfermedad que solo sufren 167 personas en el mundo, 4 ellos en España.
“Quiero dar visibilidad a esta enfermedad para ayudar a mi hijo", explica su madre.
https://t.co/BZBPSxeNIh
6/ Autism isn’t one thing.
It’s made up of many overlapping genetic stories.
CHD8 is one of the clearest we’ve found. But it is one of more than a hundred genes found to play a role.
And it’s helping science move from “mystery” to mechanism.
#Neurodivergent #CHD8 #SPARKStudy
2/ What is CHD8?
It’s a gene that helps manage how DNA is packed and which other genes get turned on during brain development.
It’s called a chromatin remodeler — kind of like the foreman for early brain construction.
#CHD8 #AutismResearch
Did you know there are rare diseases associated with #autism? #ADNP #CHAMP1 #CHD8 #DDX3X #FOXP1 #PhelanMcDermid #SHANK3
On #RareDiseaseDay, & everyday, we aim to improve lives of those impacted by bridging the gap between scientific discoveries & enhanced care. #ShowYourStripes
Yeray ha sido diagnosticado de síndrome #CHD8, una enfermedad que solo sufren 167 personas en el mundo, 4 ellos en España.
“Quiero dar visibilidad a esta enfermedad para ayudar a mi hijo", explica su madre.
https://t.co/BZBPSxeNIh
Yeray, un niño con el síndrome de sobrecrecimiento #CHD8, una enfermedad muy rara de la que sólo hay tres casos en España y se suele confundir con el autismo. Sus padres dan a conocer su historia para dar visibilidad #EnfermedadesRaras
https://t.co/AUUzHr1aAg
Yerai tiene una enfermedad rara que solo padecen 167 personas en el mundo: se llama síndrome chd8 y su familia pide más investigación > https://t.co/bMOLJnGNFQ
🔥preprint from @goodfrognosis Lab @UCSF! Uses data from @ciitizen & @SimonsFdn! Great analysis on #SYNGAP1 #CHD8 #SCN2A #CHD2 & #DYRK1A
#Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility
cc @DallmanLab @czi
https://t.co/woshTylPDK
#Williams-Beuren #7microduplication #Weaver #Gabriele-DeVries #Kabuki #Helsmoortel Van der Aa #CHD2 developmental and epileptic encephalopathy #CHD8 #Autism Spectrum Disorder #ASD /3
[Journée internationale des maladies rares] 🎗️
Retour sur ma rencontre avec Marlène Balpe, une jeune femme touchée par le syndrome du #CHD8, une maladie génétique rare. Son parcours est un hymne à la résilience, au courage. Je suis fière de l'accompagner dans son combat 💪
![Lysiane_Metayer's tweet photo. [Journée internationale des maladies rares] 🎗️
Retour sur ma rencontre avec Marlène Balpe, une jeune femme touchée par le syndrome du #CHD8, une maladie génétique rare. Son parcours est un hymne à la résilience, au courage. Je suis fière de l'accompagner dans son combat 💪 https://t.co/RZOGQwCnR1](https://pbs.twimg.com/media/GHh11itWMAAtsnq.jpg)
![Lysiane_Metayer's tweet photo. [Journée internationale des maladies rares] 🎗️
Retour sur ma rencontre avec Marlène Balpe, une jeune femme touchée par le syndrome du #CHD8, une maladie génétique rare. Son parcours est un hymne à la résilience, au courage. Je suis fière de l'accompagner dans son combat 💪 https://t.co/RZOGQwCnR1](https://pbs.twimg.com/media/GHh11ikWUAAcVXv.jpg)
New review on #CHD8 - lots of interesting new developments but many more questions remaining!
https://t.co/A7H82Gsv9T
#BiochemSocTrans
An autism-linked mutation in the gene #CHD8 (which is on the #SimonsSearchlight gene list) yields wildly different physical and behavioral traits in mice depending on their genetic backgrounds, according to a study of 33 mouse strains: https://t.co/mjhPRXivgz
A new study has found that genetic background can help explain the varying traits of autism. #AutismResearch #CHD8
https://t.co/OPQxYzMp2j
📢 A new work by the @NeuroEpi_CIBio lab is now out in @NAR_Open!
🔬 #CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters #RNA alternative #splicing
➡️ https://t.co/TzNy5l8xLV
#CIBIOpaper
Mitchel et al., CHD8-Related Neurodevelopmental Disorder
#CHD8 #GeneReviews @GeisingerADMI @GeisingerRsrch @red_planet4
@coramtaylor @clesemartin
@dhledbetter @EichlerLab
https://t.co/h9bXxRkGwS
Impactful paper from the great Pat Levitt of #usc. #CHD8 haploinsufficiency in the mouse #CollaborativeCross background uncovers both susceptibility and resiliency of individual strains towards #autism-related traits. Very impressive! https://t.co/K1AbaOCqQ0
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