Mutations in a gene that plays a role in producing cholesterol in the body increase the risk for autism, suggesting therapies for some people with the disorder, according to research presented in a poster Tuesday at the Autism Consortium’s 2013 Research Symposium.
Spectrum: Autism Research News
Tag: rare variants
Researchers have mined the medical records of more than 100 million people and found close to 3,000 associations between single-gene diseases, such as cystic fibrosis, and complex genetic disorders such as autism. The results were published 26 September in Cell.
Two new studies have found more small deletions and duplications of DNA in individuals with autism than in unaffected controls. These variants may also affect the severity of the disorder.
The genomes of people who have both autism and intellectual disability have more regions that may harbor recessive mutations than those of their unaffected siblings, according to a study published 11 July in the American Journal of Human Genetics.
The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.
Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.
A new statistical method for linking genes to a disorder analyzes both rare and common variants of a gene at the same time, according to a study published 14 May in the American Journal of Human Genetics. This makes it possible to confirm associations that other techniques might overlook.
Children with autism have more copies of some chromosomal regions than controls do, according to a study published 19 April in Human Molecular Genetics. This is true even after excluding the regions that are the most likely to lead to autism.