Altered transcription in dup15q syndrome; and more

Connecting threads: Transcriptional changes seen in cortical organoids derived from people with dup15q syndrome are consistent with those detected in postmortem brain samples, according to a new study. Affected processes included increased glycolysis, disrupted marker expression and aberrant morphology. Previous work by this research group found parallels between dup15q syndrome and idiopathic autism. The investigators theorize that the observed metabolic dysregulation “may lead to altered neuron projection, synaptic dysfunction, and neuron hyperexcitability in dup15q syndrome.” Nature Communications

More autism research we spotted:

• “A cross-species analysis of neuroanatomical covariance sex differences in humans and mice” Biology of Sex Differences
• “AI-enabled drug prediction and gene network analysis reveal therapeutic use of vorinostat for Rett syndrome in preclinical models” Communications Medicine
• “Gene therapy GTX-102 granted FDA breakthrough designation” Angelman Syndrome News
  See also: “Angelman therapy appears safer in restarted trial”
• “How well can commonly used anxiety scales detect treatment outcomes in the context of autism?” Autism
  See also: “Unmasking anxiety in autism”
• “Functional consequences of genetic risk for neuropsychiatric conditions at chr22q” medRxiv
• “Our understanding of autistic sensory processing is limited by our questionnaire measures” Autism
• “Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders” European Journal of Medical Genetics
• “RFK Jr.’s autism time machine” The Atlantic