Somosdisca Oct 22, 2024

Hola Titánicos, cada 22 de octubre se celebra el día mundial del Síndrome de Phelan-McDermid, también conocido como 22q13, para dar visibilidad a esta enfermedad rara que afecta a unas 200 personas en España.

https://somosdisca.es/dia-mundial-del-sindrome-de-phelan-mcdermid-2024/

#díamundialdelSíndromedePhelanMcDermid #SíndromedePhelanMcDermid #PhelanMcDermid #22q13 #sindrome22q13 #enfermedadrara #enfermedadesraras #visibilidad #cuidados #prevencion #salud #enfermedad #discapacidad #disability #disabilities #titan #titanicos #titanico #somosdisca #gentetitanica

Día mundial del Síndrome de Phelan-McDermid 2024 - Somosdisc@

Cada 22 de octubre se celebra el día mundial del Síndrome de Phelan-McDermid, también conocido como 22q13, visiviizando esta enfermedad rara

Somosdisc@
Autism News InternationalNov 21, 2022
Organoids identify potential therapies, circuit flaws for autism-linked syndromes

https://www.spectrumnews.org/news/organoids-identify-potential-therapies-circuit-flaws-for-autism-linked-syndromes/

#astrocytes #organoids #seizures #autism #cortex #22q13 #News
Organoids identify potential therapies, circuit flaws for autism-linked syndromes | Spectrum | Autism Research News

Brain cell clusters serve as drug screens and reveal connectivity differences for autism-linked conditions, two new models show.

Spectrum | Autism Research News
Autism News InternationalJun 24, 2022
Autism-linked mutation disrupts brain circuit to change social behavior

https://www.spectrumnews.org/news/autism-linked-mutation-disrupts-brain-circuit-to-change-social-behavior/

#excitatorysignaling #inhibitorysignaling #connectivitytheory #prefrontalcortex #neuralcircuits #schizophrenia #connectivity #optogenetics #dendrites #amygdala #synapses #autism #SHANK3 #22q13 #News
Autism-linked mutation disrupts brain circuit to change social behavior | Spectrum | Autism Research News

Therapies that target the circuit could boost social activity, new findings suggest.

Spectrum | Autism Research News
Autism News InternationalMar 29, 2022
DNA tags in placenta point to possible autism-linked gene

https://www.spectrumnews.org/news/dna-tags-in-placenta-point-to-possible-autism-linked-gene/

#geneexpression #environment #epigenetics #pregnancy #autism #22q13 #News
DNA tags in placenta point to possible autism-linked gene | Spectrum | Autism Research News

The gene, dubbed NHIP, is in a chromosomal region that shows unusually low levels of DNA methylation in placentas from women who gave birth to autistic children.

Spectrum | Autism Research News