Researchers at Ambry Genetics Corp analyzed how accurate direct-to-consumer genetic tests are in highlighting specific genetic variants. They found test raw data was incorrectly reported and could not be verified by further diagnostic laboratory tests in around 40% of the cases. These findings based on a small sample of 49 patients are reported in journal… Continue reading Home genetic tests: how accurate are they?
Researchers at the Centre for Addiction and Mental Health (CAMH) and Queen’s University have identified 26 new genes linked to intellectual disability. The study, published online today in Molecular Psychiatry, has implications for the diagnosis and clinical care of those affected, and also adds to our growing knowledge of brain development and functioning. It may… Continue reading Research finds new genes behind Intellectual disability
Autism spectrum disorder is caused by a variety of factors, both genetic and environmental. But a new study led by UCLA scientists provides further evidence that the brains of people with the disorder tend to have the same “signature” of abnormalities at the molecular level. The scientists analyzed 251 brain tissue samples from nearly 100… Continue reading Similar brain molecular signatures found in people with autism spectrum disorder
A research effort at the Centre for Genomic Regulation in Barcelona, Spain, reveals new molecular mechanisms of Huntington’s disease. The results, published in The Journal of Clinical Investigation, question the approaches used up to now for treatment of the disease. They also point to messenger RNA as a key pathogenic component that will make it… Continue reading Research finds role of Messenger RNA in Huntington’s disease patholgy