How genetics is revealing rare childhood conditions
A pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world.
A pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world.
An electrical brain implant all but erased the obsessions that had consumed Becky Audette, years after her autism diagnosis. Could similar implants help other people with severe autism?
Watch the complete replay of this journal club, which featured a paper exploring rare genetic variation in psychiatric conditions, including autism.
People with mutations in SHANK3 have milder features than do those missing a chunk of DNA that includes the gene.
Referring children with developmental delay to a clinical geneticist for testing and counseling helps families and advances research.
Early features of other conditions may contribute to autism itself
A checklist for fragile X syndrome could help identify people with the condition in low-resource settings, France unveils a plan for early diagnosis and education of children with autism, and virally inserted ‘bar codes’ help track individual neurons.
We must diversify databases of reference DNA to improve our ability to interpret the consequences of genetic variation.
Some individuals who have autism mutations show no signs of the condition; understanding why may lead to treatments.
Researchers can convert the distinct genetic backgrounds of lab mice from a problem to an advantage, exploiting the differences to advance our understanding of autism.