On 1 October, Mark Daly discussed new insights into autism from common and rare genetic variants. (Due to technical issues, the video replay for this webinar is unavailable.)
Spectrum: Autism Research News
Tag: rare variants
Advanced sequencing methods can detect spontaneous genetic changes that show up in only a small subset of a person’s cells, suggest two new studies published in August. Despite their low prevalence in the body, these so-called ‘somatic mosaic mutations’ occur frequently in people and may be important contributors to brain disorders.
People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published 1 May in the American Journal of Human Genetics.
Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.
Watch the complete replay of Joseph Gleeson explaining how DNA sequencing can help find treatments, including dietary supplements, for rare types of autism.
Spontaneous and rare mutations, particularly in genes related to networks that regulate neuronal connections, contribute a small but significant proportion of the risk for schizophrenia, report two large studies published online 22 January in Nature.
Individuals with autism may carry genetic variants in a pathway important for brain development, according to a study published in September in Translational Psychiatry.
A newly discovered spontaneous mutation, described 27 August in Molecular Psychiatry, links autism to changes in the regulation of the chemical messenger dopamine.
The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published 3 October in PLoS Genetics.