Compared to other common psychiatric disorders, the diagnostic reliability of alcohol dependence (AD) as determined by the Diagnostic and Statistical Manual of Mental Disorders – Fourth Edition (DSM-IV) is relatively high. However, when members of the general public are asked to report on past experiences or lifetime history (LTH) of psychiatric or substance use disorders, […]
Harnessing the new generation of rapid, highly accurate gene-sequencing techniques, a research team has identified the disease-causing mutation in a newly characterized rare genetic disease, by analyzing DNA from just a few individuals. The power and speed of the innovative bioinformatics tool marks a step toward personalized genomics —discovering causative mutations in individual patients.
In an effort to unravel the tangled biology of autism, Johns Hopkins scientists have created a mouse model that mimics a human mutation of a gene known to be associated with autism spectrum disorders. Experiments with the engineered mouse reveal a molecular mechanism by which mutations of the gene named Shank3 affect the brain and […]
A new study from Cambridge University has for the first time found that autism diagnoses are more common in an IT-rich region. The Medical Research Council (MRC) funded study, published today in the Journal of Autism and Developmental Disorders, has important implications for service provision in different regions and for the ‘hyper-systemizing’ theory of autism.
A team of researchers have discovered that, on average, thirty mutations are transmitted from each parent to their child, revising previous estimations and revolutionizing the timescale we use to calculate the number of generations separating us from other species. “Your genome, or genetic code, is made up of six billion pieces of information, called nucleotides,” […]
For the first time, a research group at Lund University in Sweden has succeeded in creating specific types of nerve cells from human skin. By reprogramming connective tissue cells, called fibroblasts, directly into nerve cells, a new field has been opened up with the potential to take research on cell transplants to the next level. […]
Hundreds of small genetic variations are associated with autism spectrum disorders, including an area of DNA that may be a key to understanding why humans are social animals, according to a multi-site collaborative study led by researchers at Yale University. Published in the June 9 issue of the journal Neuron, the study reinforces the theory […]
A clinically extensive and mathematically powerful study of 1000 families with one autistic child and one unaffected sibling has validated a controversial theory of autism’s complex genetic causation. The study for the first time estimates the minimum number of locations in the human genome – 250 to 300 – where gene copy number variation (CNV) […]
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