#22q11 — Public Fediverse posts

Hola Titánicos, cada 22 de noviembre se celebra el día mundial del Síndrome 22q11, también conocido como Síndrome de DiGeorge o Síndrome Velo-Cardio-Facial, afectando a 1 de cada 4000, perjudicando la salud y calidad de vida desde el nacimiento.

https://somosdisca.es/dia-mundial-del-sindrome-22q11-2024/

#Síndrome22q11 #SíndromedeDiGeorge #SíndromeVeloCardioFacial #enfermedad #salud #22q11 #visibilidad #enfermedadrara #enfermedadesraras #disca #discapacidad #discapacidadorganica #disabilities #disability #TitaLlorens #titan #titanicos #somosdisca #gentetitanica

Brain signatures of rare variants hint at cardiovascular risk

https://www.spectrumnews.org/news/brain-signatures-of-rare-variants-hint-at-cardiovascular-risk/

#copynumbervariation #brainimaging #rarevariants #15q11-13 #16p11.2 #autism #22q11 #News

Brain signatures of rare variants hint at cardiovascular risk

https://www.spectrumnews.org/news/brain-signatures-of-rare-variants-hint-at-cardiovascular-risk/

#copynumbervariation #brainimaging #rarevariants #15q11-13 #16p11.2 #autism #22q11 #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

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

Autism’s genetic heterogeneity evident in brain connectivity patterns

https://www.spectrumnews.org/news/autisms-genetic-heterogeneity-evident-in-brain-connectivity-patterns/

#copynumbervariation #schizophrenia #brainimaging #connectivity #biomarkers #15q11-13 #16p11.2 #autism #22q11 #News #fMRI #GWAS #IQ

Chromosome 22 mutations leave telltale marks on brain development in autistic people

https://www.spectrumnews.org/news/chromosome-22-mutations-leave-telltale-marks-on-brain-development-in-autistic-people/

#copynumbervariation #schizophrenia #brainimaging #biomarkers #autism #cortex #22q11 #News #MRI

Deletions on chromosome 22 have ripple effects across genome

https://www.spectrumnews.org/news/deletions-on-chromosome-22-have-ripple-effects-across-genome/

#copynumbervariation #geneexpression #schizophrenia #autism #22q11 #News #GWAS

Unsere lieben Freund:innen von Wir sind 22Q e. V. suchen eine Person für die Koordinationsstelle Medienpädagogik! Falls jemanden wen kennt (Hallo #medienpaed Bubble!), gerne weitergeben! #medienpädagogik #inklusion #sozialearbeit #wirsindmedienpaed #SharingIsCaring #22Q11 #WirSind22Q
⬇️❤️⬇️🤝⬇️🥳

Myelin loss may explain how autism-linked DNA deletion affects cognition

https://www.spectrumnews.org/news/myelin-loss-may-explain-how-autism-linked-dna-deletion-affects-cognition/

#copynumbervariation #learningandmemory #geneexpression #neuralcircuits #hippocampus #mousemodels #treatments #attention #autism #cortex #22q11 #News