People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The long-standing link between maternal infection during pregnancy and having a child with autism may reflect common genetic or environmental factors instead.
The technique involves editing the cellular instructions to make MECP2 protein and partially restores its levels in the brainstem.
A 341-repeat mutation from a person with fragile X does not lead to the syndrome’s traits or function the same way in mice, highlighting a need for different animal models.
The brains of mice carrying different mutations in the autism-linked gene TBR1 display different molecular changes yet similar structural changes, resembling those previously found in autistic people with TBR1 mutations.
Sleep disruption early in life has long-lasting consequences for mice missing a copy of the autism-linked gene SHANK3.
Mice with a mutated copy of SHANK3 fail to establish normal sleep patterns during development.
My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
Roche’s gene therapy drug Rugonersen boosts expression of the protein missing in the syndrome in mice and monkeys, but whether it works in people remains to be seen.