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Vancouver (September 9th, 2003) - A team of researchers, led by Dr. Stephen Scherer, an investigator of the Canadian Genetic Diseases Network and Dr. Berge Minassian, has identified a gene responsible for Lafora disease, the most severe form of teenage-onset epilepsy.
Dr. Scherer was involved in the 1998 discovery of the first gene implicated in Lafora disease (EPM2A), which is present in 50% of diagnoses. With the discovery of this new gene, NHLRC1, and by studying this gene's relationship to EPM2A, Dr. Scherer and his colleagues can now account for 90% of Lafora cases.
This study, funded by the Canadian Genetic Diseases Network, the Canadian Institutes for Health Research, Genome Canada, the Centre for Applied Genomics at the Hospital for Sick Children and the Hospital for Sick Children Foundation, has identified the basic genetic defect causing this disease, and may lead to potential therapeutic treatments for patients.
"The discovery of this gene has enormous implications for patients and families who are affected with this disease," said Dr. Michael Hayden, Scientific Director of the Canadian Genetic Diseases Network. "It has the potential to lead to new diagnostic and therapeutic treatments for Lafora disease."
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