Human Genome Project (unfinished, notes)
The Human Genome Project, the mapping of our 30,000-50,000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the whole of therapeutic and preventive health care. The tracing of genetic diseases to their molecular causes is rapidly expanding diagnostic and preventive options. The increased insights into molecular pathways, gained from high-throughput 'functional genomics', using DNA-chip and protein-chip approaches and specially designed animal model systems, will open great prospects for pharmacological and genetic therapies. Powerful bioinformatics and biostatistics will further improve our pattern recognition and accelerate progress. A rapidly expanding area of high expectations is that of 'pharmacogenomics': the design of more effective drugs with lower toxicity through tailoring of drug treatment to individual, genetically determined differences in drug metabolism. Not only will this decrease the cost of health care through reduction of adverse drug reactions, but a better stratification of populations will also provide more statistical power farther upstream in drug trials. However, the optimal benefits from the current explosion of 'data mining' will only be realized when the basic
Nonetheless, interest in heredity and in other concepts within the field of genetics has existed since the beginning of humanity. Title: Primer on medical genomics part II: Background principles and methods in molecular genetics. This is one of the goals of HUGO, the international Human Genome Organization, established 13 years ago to assist coordination of data acquisition and exchange and societal implementation of the genome project. Advances in molecular biology techniques have allowed accurate and rapid characterization of DNA sequences as well as identification and quantification of cellular RNA and protein. Implementation of genetic criteria for patient selection and individual assessment of the risks and benefits of treatment emerges as a major challenge to the pharmaceutical industry. The majority of scientific work in genetics has been done in the past 150 years. New developments in genotyping techniques and bioinformatics, enabling detection of single-nucleotide polymorphisms, already provide physicians and scientists with tools that change our understanding of human biology. Title: Primer on medical genomics part I: History of genetics and sequencing of the human genome. 80 Abstract: In comparison with most other disciplines of science, the field of genetics is still in its youth. The entire cellular DNA consists of approximately 3 billion base pairs, of which only 1% is thought to encode a functional protein or a polypeptide. This article provides an account of the history of genetics, spanning from humankind's initial attempts to understand and influence heredity, to the early scientific work in the field of genetics, and subsequently to the advancements in modern genetics. Genetic information is expressed and regulated through a complex system of DNA transcription, RNA processing, RNA translation, and posttranslational and cotranslational modification of proteins. Author: Chiche JD , Cariou A , Mira JP Source: Crit Care, 6(3): 212-5 2002 Service Fee: $12.
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