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Human Genome Project: Diseases
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Human Genome Sciences said a 76-week Phase II trial of its lupus treatment LymphoStat produced positive results, reducing disease activity and appearing to be well-tolerated by patients. The percentage of patients who met the trial's primary endpoint for Phase III trials rose from 46% after 52 weeks to 56% after 76 weeks, the Rockville, Md. biotechnology company said.
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Availability of the human genome sequence presents unique scientific opportunities, chief among them the study of natural genetic variation in humans. Genetic or DNA sequence variation is the fundamental raw material for evolution. Importantly, it is ... the basis for variations in risk among individuals for numerous medically important, genetically complex human diseases. An understanding of the relationship between genetic variation and disease risk promises to change significantly the future prevention and treatment of illness. The new focus on genetic variation, as well as other applications of the human genome sequence, raises additional ethical, legal, and social issues that need to be anticipated, considered, and resolved.
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A major contribution to the genome project has been the development of "positional cloning" (Collins, 1995). This technical breakthrough permits isolation and characterization of a given gene once its approximate location is known by standard genetic mapping techniques. It took over 8 years to isolate the Huntington's gene, but with positional cloning, by mid-1995, approximately 50 disease-related genes had been characterized. These include breast cancer, colon cancer, retinitis pigmentosa, several genes for diabetes and for Alzheimer's, and even a gene directly related to obesity in experimental animals (Zhang, 1994).
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The availability of extensive genetic maps has increased the pace by which different disease genes are localized in the human genome. The techniques have ... enabled doctors to identify susceptible areas of the genome that may be responsible for some disorders, such as diabetes, hypertension and certain forms of cancer that are more complicated and are caused by more than one genetic change.
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