Making genomic medicine a reality

Article Abstract:

Having genetic knowledge used to advance the practice of medicine is a laudable goal, according to Arthur L. Beaudet, president of the American Society of Human Genetics. Many advances may come to medicine through genetics soon. The use of genotyping in medicine would not involve new principles, but could follow the model of newborn screening for PKU. Hemochromatosis presents an extraordinary opportunity for population-based screening to save lives and there are major opportunities related to cancer and heart/circulatory diseases. Risks and fears connected to genetic testing cannot be ignored. Dilemmas exist for geneticists in population-based genotyping, in prenatal genetics, and in greater use of family-based genotyping for autosomal dominant disorders. The history of genetics is reviewed and the ways in which complex traits fit into futuristic genomic medicine are considered.

Health aspects, Social aspects, Care and treatment, Medicine, Hypertension, History, Colorectal cancer, Social policy, Youth, Ethical aspects, Heart diseases, Alzheimer's disease, Diabetes in youth, Juvenile diabetes, Geneticists, Phenylketonuria, Genetic screening, Genetic testing, Mutation (Biology), Mutation, Hemochromatosis, Population genetics, Speeches, lectures and essays, Transcript, Genetic research, Polyposis, Familial, Familial polyposis, Heredity, Human, Human heredity, Pharmacogenetics, Pharmacogenomics, American Society of Human Genetics

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Genetics of Angelman syndrome

Article Abstract:

Angelman syndrome (AS), a neurologic disorder involving severe mental retardation, in recent years has come to be much better understood, starting with the disease's being identified as a ubiquitin ligase gene and demonstration of the brain-specific imprinting for the gene. This is the first clear case of a single-gene disorder involving the ubiquitination pathway in humans. Significant features of the AS and Prader-Willi syndrome (PWS) region of human chromosome 15q11-q13 are shown.

Research, Physiological aspects, Ubiquitin, Prader-Willi syndrome

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Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

Article Abstract:

Prenatal diagnosis for the mitochondrial nucleotide 8993 DNA mutations is discussed as it relates to genetic counseling and data from 56 pedigrees used to find empirical recurrence risks. Heteroplasmy, or mutant load, which can vary from 1-99%, complicates mitochondrial genetics and makes it difficult to predict clinical severity to be expected from mutant load measured in fetal tissue.

Australia, Statistical Data Included, Mitochondrial DNA

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