Method pinpoints cell-specific effects of autism-linked mutations
The approach, which combines CRISPR with single-cell analyses of organoids, suggests that intermediate progenitor cells are especially vulnerable to mutations associated with autism.
The approach, which combines CRISPR with single-cell analyses of organoids, suggests that intermediate progenitor cells are especially vulnerable to mutations associated with autism.
Voles reared primarily by their fathers show altered synapse density.
The Holland Bloorview clinician and research director discusses how growing up on a small island shaped her career and the existential questions that keep her up at night.
The inhibitory cells misfire and contribute to social difficulties in mice that model the syndrome.
The discovery could help clinicians diagnose children who carry mutations in the gene, called SCN2A, and gauge their responses to potential therapies.
The approach prompts cultured cells to correct the genetic mutation in fragile X syndrome using their own DNA repair system, but it still needs to be tested further.
Many genes related to the condition play a role in the internal scaffolding of cells, and cytoskeletal disruptions can affect neurodevelopment and behavior.
But the alternatives, including living-brain biopsies, raise logistical and ethical questions, experts say.
These scores — composite measures of a person’s autism-linked common genetic variants — cannot predict an autism diagnosis but could help researchers better understand the condition’s underlying biology.
The findings add to the growing evidence that genes with disparate functions can play similar roles in brain development.