International team uses genomic tools to discover gene for childhood genetic disorder

Cambridge, MA, January 14, 2003 -- 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. Identification of the gene will enable physicians to provide carrier testing and improved prenatal diagnostic options to members of this community, whose only way of knowing now is after the child is born.

The findings also illustrate the power and promise of integrative genomic approaches to finding disease. Armed with a clue that the culprit is related to mitochondrial function, the scientists searched for leads in three types of genomic datasets--the human genome sequence, expression profiles (data from DNA chips that measure activity of thousands of genes simultaneously), and proteomics data. When information gathered from the three platforms were integrated, a single gene, LRPPRC, stood out as the clear suspect. The team then tested this gene in patients, parents, and controls and identified two mutations that cause the disease. These findings provided definitive proof that the LRPPRC gene is responsible for LSFC.

"Genomic information is changing the way we tackle disease," says Eric Lander, Director of the Whitehead/MIT Center for Genome Research. "Over the next decade, scientists will increasingly be able to use powerful global tools and integrative strategies to accelerate disease-gene discovery, even for complex, common diseases like diabetes and heart disease."

Contact: Christine Zeindler
McGill University

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