Archive by date | 2012

Timeline of events: A brief history of what made news this year

Timeline of events: A brief history of what made news this year

This year has proven to be a veritable cliff-hanger for the world of biomedicine. At the same time that the US government stands poised on the brink of the so-called ‘fiscal cliff’, pharmaceutical companies are stumbling with the industry’s ‘patent cliff’ and academic researchers face the looming ‘funding cliff’. But not everything in 2012 was so dire, with dozens of new drugs to hit worldwide markets and countless discoveries made to enable the next generation of medicines. What follows are a set of ‘Cliff’s notes’ to the year that was for the field.  Read more

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