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Leading molecular geneticist Dr. Roy Gravel says about the complexities of genetic research. "Imagine having a gigantic dictionary with all of the words in the English language randomly placed inside. It would be a horrendous task to find the word you're looking for. The Human Genome Project will index DNA the way words are indexed in a dictionary." A scientist for over 30 years, Dr. Gravel says it's critical to the progression of research to adapt to and use new technology and available knowledge. Learning how to use the sophisticated, computer-based technology needed to access the information generated by the Human Genome Project is his current project. Dr. Gravel hopes to apply this new knowledge to his own research areas: the inherited Tay-Sachs and Sandhoff brain diseases and certain vitamin disorders. Dr. Gravel was among the first researchers to identify genetic mutations responsible for Tay-Sachs disease. Babies born with the rare brain disorder appear healthy at birth and seem to develop normally but within six months, the disease's progressively destructive effects become visible. Tay-Sachs babies
The disease results from a defective protein in an enzyme called hexosaminidase A (Hex-A). When cells metabolize their nutrients, they create metabolic garbage. The lysosome is the garbage dump in cells. Lysosomes break down the collected garbage the way stomach acids break down food. Unfortunately, in this disease, a fatty molecule called a ganglioside doesn't break down. Instead, it eventually causes the garbage dump to swell beyond capacity. This swelling of the lysosomes in neurons in Tay-Sachs patients causes severe brain damage and death. Although there isn't a cure for Tay-Sachs disease, researchers in England have used drugs to slow the synthesis of gangliosides. But now they must ensure this process has no harmful effects on cells. Sandhoff disease is a degenerative disease affecting children in a similar way, but is less common than Tay-Sachs disease. The same ganglioside accumulation occurs in brain cells but the disease results from a mutation in a different gene on a different chromosome. Dr. Gravel also studies genetic diseases associated with the inability to use vitamins properly. "Our body can't use many vitamins in the form that we eat them. It has to convert them to their active forms using enzymes and metabolic pathways. Sometimes this process goes amiss due to mutant genes, and disease results." A recent arrival to the University of Calgary from Montreal's McGill University, the Heritage researcher will increase his vitamin research by forming a research group of experts in genetics, nutrition, development, and kinesiology. "We want to find out why we get heart disease and cancers later in life," Dr. Gravel explains. "Why don't we have heart attacks when we're five years old?" There is increasing evidence that common mutations in many genes, including vitamin genes, may increase the risk of such diseases late in life. "Our studies will allow us to identify people at risk for these diseases and allow them, through simple dietary changes, drug intervention, or directed exercise, to be protected against the diseases to which they're genetically disposed." Dr. Roy Gravel is a Heritage Scientist, Killam Chair, and a Professor in the Faculties of Medicine and Kinesiology. In addition to Heritage funding, Dr. Gravel receives support from the Medical Research Council of Canada and the U.S. National Institutes of Health. He is a member of the Canadian Genetic Diseases Network and the MRC Group in Medical Genetics. Joining him from Montreal is Heritage-funded student Aaron Wilson, who is completing his doctoral studies on folate and vitamin B12 disorders.
For more information on Tay-Sachs and Sandhoff diseases, please consult the following websites: |
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