Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.
Spectrum: Autism Research News
Tag: rare variants
Several genetic and animal studies in the past year have found intriguing ties between autism and DISC1, one of the oldest candidate genes for psychiatric disorders.
Individuals who carry a large and rare deletion on chromosome 16 that is associated with autism are likely to have developmental delays, be obese or both, according to two studies published last week in Nature.
Genetic variations that tweak the brain’s release of oxytocin — a hormone involved in social bonding and establishing trust — may increase the risk of developing autism or traits of the disorder, according to three new studies published in the past few months.
Scientists have for the first time found direct evidence that defects in the GABA receptor sometimes give rise to autism, according to research published 24 November in Molecular Psychiatry.
National Institutes of Health director Francis Collins talks about the agency’s upcoming plans for “beefing up” autism research, including more than $100 million each year in grants for the field.
Several new genetic variants associated with schizophrenia lie in regions important for immune function and associated with autism. This suggests that both disorders stem partly from abnormal activation of the immune system, say some researchers.
Rare, spontaneous mutations could account for at least ten percent of cases of schizophrenia, according a study published online last week.