Charcot-Marie-Tooth Disease Press Releases

A DNA helix. Courtesy of NIH's National Human Genome Research Institute.

Whole Genome Analysis Solves Medical Mystery in One Family, Comes Nearer to Routine Use

Thursday, Mar 11, 2010

For the first time, researchers have used whole genome sequencing to achieve a molecular diagnosis in a family with a genetic disorder. The results suggest that in the near future, genome sequencing could become a routine part of medical care, both to diagnose rare disorders and help estimate the risk of common disorders.

Reactions to Protein Stress in Neurodegenerative Disease – Sometimes Good, Sometimes Bad and Always Ugly

Friday, Mar 14, 2008

Research has shown that cells have a cleanup system for handling protein "stress," and some studies suggest the possibility of developing therapeutic drugs that would work by giving the system a boost. But a new study published in Neuron suggests that during prolonged stress, the cleanup system can suppress vital cell functions or even actively kill the cell.