Autism genes identified using new approach
Researchers have developed a machine-learning approach that for the first time analyzes the entire human genome to predict which genes may cause autism spectrum disorder, raising the number of genes that could be linked to the disorder from 65 to 2,500. Ref. Source 1t.
Researchers uncover new potential genetic links to common brain disorder
A set of 30 inherited recessive genes that play a role in intellectual disability, a neurodevelopmental disorder that affects as many as 213 million people around the world, has been, for the first time, identified by an international group of researchers. Ref. Source 8d.
Automated assessment of early autism
Autism Spectrum Disorder is usually diagnosed in early childhood, but genetic detection of this brain disorder could mean more timely interventions that improve life for the patient and their carers. Research suggests that machine learning might be used to analyze genetic data that points to an ASD diagnosis before symptoms become obvious. Ref. Source 8b.
Autism spectrum disorders: New genetic cause of identified
Autism spectrum disorders affect around one percent of the world's population and are characterized by a range of difficulties in social interaction and communication. In a new study, a research team has identified a new genetic cause of ASD. Ref. Source 5c.
Genetic cause identified for previously unrecognized developmental disorder
An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these complex conditions and opens the possibility of diagnosing other previously undiagnosed patients with similar clinical disorders Ref. Source 6j.
Scientists Uncover Possible Therapeutic Targets for Rare Autism Spectrum Disorder
Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder. Ref. Source 2l.
26 novel genes linked to intellectual disability
26 new genes have now been linked to intellectual disability. Currently most patients with intellectual disability receive no molecular diagnosis, which significantly affects their health and shortens their lifespan. Ref. Source 3m.
Mice provide insight into genetics of autism spectrum disorders. The CHD8 gene is associated with some cases of human autism. A new study shows that mice with mutated CHD8 show defects in brain development and behavioral changes, and may give insight into genetic causes of autism spectrum disorders. Source 1k.