Getting to a diagnosis of autism or another neurodevelopmental disorder is a long and frustrating experience for some families — especially when it comes to finding the underlying genetic cause. DNA sequencing could ease this arduous journey.
Spectrum: Autism Research News
Tag: rare variants
Each child with autism is different from the next. One approach rapidly gaining momentum makes sense of this diversity by grouping children together based on their genetics, then looking for patterns in their symptoms. The long-term aim: personalized treatments for each subtype of autism.
Experimental drugs can reverse the effects of some autism-linked mutations in the dopamine transporter, a protein that shuttles the chemical messenger dopamine into neurons. Researchers presented the unpublished findings in five posters yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.
Stephan Sanders has quickly climbed the ranks in autism research. At 35, he’s already credited with bringing a measure of clarity to autism genetics. And that’s just one feat in a long and accomplished resume.
Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
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.