The work was done by an international team of scientists at the Whitehead Institute/MIT Center for Genome Research in Cambridge, MA; Genome Quebec Innovation Centre, McGill University Health Centre in Montreal; MDS Proteomics in Odense, Denmark; Montreal Genome Centre, McGill University Health Centre in Montreal; Hospital for Sick Children in Toronto; Service de Genetique Medicale, Hopital Sainte-Justine in Montreal; and the Department of Pediatrics and Clinical Research Unit, Chicoutimi, Canada. (See paper for a full listing of authors.),
"It is gratifying to finally find the gene for this devastating childhood disease and provide this community tangible diagnostic tools," says John Rioux, who directs a human genetics team at the Whitehead/MIT Center for Genome Research and has been working on the problem since he left French Canada seven years ago. "We have heard so much about the power of genomics, and to see it applied in a way that has immediate clinical implications is truly rewarding."
"I am thrilled and excited by these findings," says Vamsi Mootha, postdoctoral fellow at the Whitehead/MIT Center for Genome Research. "It is amazing to be doing research in an era where the detective work of finding disease-genes has become a matter of downloading data from publicly available databases."
"This work truly captures the spirit of international collaboration, and of the value of interdisciplinary approaches to tackle the genetic underpinnings of disease," says Thomas Hudson, Director of the Montreal Genome Centre in Canada. Hudson is also an alumnus of the Whitehead/MIT Center for Genome Research and a native of the SLSJ region. "We also are enormously grateful to the patients and their families for their ongoing cooperation and support."
Leigh Syndrome, French Canadian type (LSFC)
LSFC is an autosomal recessive disorder that affects 1 in 2000 live births in the SLSJ region (the same incidence rate as Cystic F
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Contact: Christine Zeindler
christine.zeindler@muhc.mcgill.ca
514-934-1934
McGill University
14-Jan-2003