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Vancouver (January 21, 2003) - Dr. Johanna Rommens, a Principal Investigator of the Canadian Genetic Diseases Network and Director of the Network's Transcribed
Sequence Detection Faciility, led a research team that has identified a gene altered in Shwachman-Diamond Syndrome. Dr. Rommens is a Professor of Medical Genetics at the University of Toronto and The Hospital for Sick Children in Toronto. The study was published in the January 2003 issue of Nature Genetics.
Shwachman-Diamond Syndrome (SDS) is a rare genetic disease and patients affected by it experience digestive, blood, and bone problems. Patients with SDS are also susceptible to potentially fatal infections and conditions such as leukemia. "The identification of the gene is important because it will allow for accurate diagnosis and screening of Shwachman-Diamond Syndrome", stated Dr. Rommens. The discovery will also make possible the development of therapies that would benefit SDS patients.
The Canadian Genetic Diseases Network is a non-profit organization and a member of the Networks of Centres of Excellence Program. Its mission is to be the primary catalyst in advancing Canada's scientific and commercial competitiveness in genetic research and the application of genetic discoveries to the prevention, diagnosis and treatment of human disease.
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