genetics Applied genetics

Applied genetics » Medicine

Genetic techniques are used in medicine to diagnose and treat inherited human disorders. Knowledge of a family history of conditions such as cancer or various disorders may indicate a hereditary tendency to develop these afflictions. Cells from embryonic tissues reveal certain genetic abnormalities, including enzyme deficiencies, that may be present in newborn babies, thus permitting early treatment. Many countries require a blood test of newborn babies to determine the presence of an enzyme necessary to convert an amino acid, phenylalanine, into simpler products. Phenylketonuria (PKU), which results from lack of the enzyme, causes permanent brain damage if not treated soon after birth. Many different types of human genetic diseases can be detected in embryos as young as 12 weeks; the procedure involves removal and testing of a small amount of fluid from around the embryo (called amniocentesis) or of tissue from the placenta (called chorionic villus sampling).

Gene therapy is based on modification of defective genotypes by adding functional genes made through recombinant DNA technology. Bioinformatics is being used to “mine” the human genome for gene products that might be candidates for designer pharmaceutical drugs.

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