Microarrays outperform karyotyping in prenatal diagnoses

Microarrays outperform karyotyping in prenatal diagnoses

Testing fetal DNA for fine-scale copy number variations can reveal more genetic defects than standard karyotyping methods that look for genetic abnormalities in developing fetuses on a whole-chromosome level, according to the largest clinical trial of its kind.  Read more

Lithium experiment in ‘Down syndrome’ mice casts light on human trials

Lithium experiment in 'Down syndrome' mice casts light on human trials

Worldwide, one in about 1,000 newborns is diagnosed with Down syndrome, a genetic disorder predominantly caused by an extra copy of chromosome 21—also known as trisomy 21—and in countries such as the US the number of children affected by the condition appears to be increasing. No medicines can currently treat the memory and learning impairments seen in Down syndrome; a new study published today in the Journal of Clinical Investigation could offer insight into the cellular pathways to target to improve cognitive function.  Read more