BATON ROUGE — Genetic diseases impact millions around the world each and every day. Complex medical conditions with genetic predispositions, such as hypertension, can also weigh heavily on our lives. Susceptibility to hypertension has many genetic…
Scientists at the National Human Genome Research Institute (NHGRI) and at the National Institute of Neurological Disorders and Stroke (NINDS) have identified the gene responsible for two related, inherited neurological disorders, and have, for the first time, directly implicated this gene and its enzyme product in a human genetic disease.
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.
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.