Team uses genomic tools to discover gene for childhood genetic disorder

In an advance illustrating the power of genomic information, an international team of researchers today announced it has identified a gene that causes Leigh Syndrome, French Canadian type (LSFC), a fatal inherited disorder affecting 1 in 2000 live births each year in the Saguenay-Lac St Jean region of Quebec. The paper appears in the January 14 issue of the journal Proceedings of the National Academy of Sciences. The findings will have immediate clinical implications for families in the Saguenay-Lac St-Jean region in the Quebec province in Canada, where the disorder is common and is associated with high infant and childhood mortality.

House Cleaning at Human Genome Project

The National Human Genome Research Institute said today it has made several key personnel changes, including the appointment of a new scientific director to run its intramural research program, a new director for the extramural program that oversaw the Human Genome Project and new advisors in the Office of the Director.