329 research outputs found

    Genome Medicine: stem cells, genomics and translational research

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    Musings on genome medicine: cholesterol and coronary artery disease

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    Cholesterol levels and not inflammatory markers are the major variables that pose a risk of coronary artery disease. Diabetes greatly increases the risk at any cholesterol level. Coronary artery disease and cancer are linked by a common protein - an apoptotic protein that also functions as a regulator of insulin secretion

    Musings on genome medicine: abuse of genetic tests

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    The wide general publication of a putative genetic test for athletic supremacy is clearly an abuse of genetics and reveals an undercurrent of hucksterism in biomedical science

    Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases

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    The lysosomal storage diseases, such as Gaucher's disease, mucopolysaccharidosis I, II and IV, Fabry's disease, and Pompe's disease, are rare inherited disorders whose symptoms result from enzyme deficiency causing lysosomal accumulation. Until effective gene-replacement therapy is developed, expensive, and at best incomplete, enzyme-replacement therapy is the only hope for sufferers of rare lysosomal storage diseases. Preventive strategies involving carrier detection should be a priority toward the successful management of these conditions

    Musings on genome medicine: the slow but inexorable process of medical care reform in the United States

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    The current healthcare system in the United States is unsustainable, but any attempts at improvement must be carefully managed to avoid weakening the country's contribution to biomedical science research and the future of genome medicine

    Musings on genome medicine: Crohn's disease

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    The inflammatory bowel diseases, Crohn's disease and ulcerative colitis, pose a fascinating challenge to specialists in gastroenterology, infectious diseases, immunology and genetics and an often crushing burden to patients and their families

    Musings on genome medicine: cancer genetics and the promise of effective treatment

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    Cancer is the most common acquired genetic disease. Great progress has been made in documenting the genetic abnormalities that cause the disease, and in the future each tumor will be subjected to genetic analysis and the appropriate combination of drugs selected. Although there are serious technological and cost hurdles to surmount and resistance and continued mutation will be a constant problem, the way is clear to rational therapy

    Musings on genome medicine: gene therapy

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    Though the field has moved with glacial speed, gene therapies have been carried out successfully in patients with bone marrow disorders including immune deficiencies. The field may be poised to move forward more rapidly, but many barriers have yet to be surmounted

    Musings on genome medicine: the Obama effect redux

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    From the point of view of genome medicine, Barack Obama has made two vital policy decisions: he has chosen a new director of the National Institutes of Health, and his proposed change in United States healthcare policy will have profound effects on genome medicine and, indeed, all of academic medicine
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