Genetics: X chromosome disorder linked to autism
Duplication of a region on the X chromosome leads to a genetic disorder characterized by severe autism, according to a study published 25 November in Annals of Neurology.
Duplication of a region on the X chromosome leads to a genetic disorder characterized by severe autism, according to a study published 25 November in Annals of Neurology.
A mathematical approach called ‘NEW biology,’ or network-enabled wisdom biology, aims to solve one of the biggest problems in disease research: isolating the key factors that drive diseases from a glut of information.
Two compounds that enhance the activity of BDNF, a protein needed for the growth of neurons, improve motor skills in mouse models of Rett syndrome and increase the mice’s lifespan.
Researchers have mapped the levels of tiny RNA fragments that regulate gene expression in specific brain regions and subtypes of neurons. The results were published 12 January in Neuron.
A new online database provides searchable information for nearly 10,000 genes, variants and chromosomal regions linked to autism. Researchers describe the resource, dubbed AutismKB, in the January issue of Nucleic Acids Research.
Blood from individuals with autism could help researchers identify biomarkers to diagnose the disorder and learn more about related symptoms, such as gastrointestinal complaints, says molecular biologist Valerie Hu.
Researchers have charted the expression of more than 15,000 brain genes across 15 stages of development, spanning from 4 weeks post-conception to more than 60 years of age, they reported 27 October in Nature.
A cancer drug shows promise as a treatment for Angelman syndrome, according to a study published today in Nature.
Dried spots of blood taken from infants at birth can help clinicians screen for fragile X syndrome in countries with limited resources, according to a study published 11 October in Genetic Testing and Molecular Biomarkers.
SP1, a protein that regulates the expression of several autism candidate genes, could increase risk of the disorder by simultaneously altering the expression of a number of the genes, according to a study published 24 October in Biological Psychiatry.