Ricardo Dolmetsch is making neurons from induced pluripotent stem cells derived from people with Timothy syndrome, a rare single-gene disorder that causes heart arrhythmias and autism. On Wednesday morning at the Society for Neuroscience annual meeting in San Diego, Dolmetsch talked to SFARI about how this approach could help autism research.
Three themes — heterogeneity, phenotype, and trajectory — are beginning to emerge in diverse lines of inquiry into autism, according to speakers at a satellite symposium of the Society for Neuroscience annual meeting in San Diego.
Researchers have narrowed down a genetic region associated with autism to one protein, cadherin 8, that helps bind cells together, according to a study published online in October in the Journal of Medical Genetics. This is the first time CDH8, the gene that encodes this protein, has been associated with autism.
Loss of activity of FOXP1, a member of a family of genes that regulate gene expression, leads to general behavioral defects, including delays in language, according to a study published in November in The American Journal of Human Genetics.
Individuals with attention deficit hyperactivity disorder (ADHD) have a higher rate of DNA duplications and deletions, including some in regions linked to autism and schizophrenia, according to a study published 23 October in The Lancet.
Research has hinted that the season of a child’s birth may play some role in his or her risk of developing various neuropsychiatric disorders. But it’s the season of conception that really matters, a new study suggests.
A common variation within a region on chromosome 16 puts a large proportion of the general population at risk for intellectual disability, according to a study published in August in Nature Genetics.
A newly characterized gene on the X chromosome may be disrupted in up to one percent of people with autism, researchers reported Wednesday in Science Translational Medicine.
Changes in diagnostic practices, more active neighborhood networks, and an increase in the number of older parents may all contribute to the massive rates of autism in California, says a group of social scientists. But the numbers still don’t add up.
Autism and intellectual disability often occur together, but in most cases that overlap is not genetic, according to a study of twin pairs published in the American Journal of Medical Genetics. Unraveling this link might help researchers pinpoint brain circuits involved in both conditions, and better understand the diversity of symptoms in the autism spectrum, experts say.