Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.
Some conditions are too rare for conventional drug trials, leading some scientists to test bespoke treatments in single participants. Gleeson discusses the merits — and limitations — of these tiny trials.
This month’s issue of the Going on Trial newsletter examines personalized therapies for rare conditions, Acadia’s new drug for Rett syndrome and developments in a cord-blood program, among other autism-related drug trial news.
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
The rare variants are also linked to ADHD and Tourette syndrome, two other conditions that disproportionately affect boys and men.
Common variants in five regions of the genome may determine whether someone has one condition versus the other.
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.
Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.