Rare Diseases Column (Commentary)


Where will genetic research take us?

Kaustuv Bhattacharya

Abstract

When Watson and Crick published the structure of DNA in Nature in 1953, they anticipated that the structure would unlock huge scientific secrets allowing the treatment of a huge range of disorders. In their day, the range of disorders that could have a genetic basis would have been unfathomable and now include forms of cancer, diabetes, Alzheimer’s and Parkinson’s syndrome. The 1950’s also saw tremendous progress in the understanding of biochemical disorders typified by Christian de Duve, Gerty and Carl Cori. The discovery of further intracellular organelles and the mechanisms of glycolysis led to the art of manipulation of the diet based upon biochemical understanding. Horst Bickel pioneered this in the 1950’s for a condition called phenylketonuria (PKU). The timing of this dramatic intervention for a severe disorder was fortunate as soon afterwards Bob Guthrie discovered a rapid and cheap bacterial inhibition assay (BIA) that could reliably identify the condition. In the 1960’s BIA was adopted as a newborn screening test for pre-symptomatic infants with PKU in several countries worldwide. This period, therefore was an era of time, when the basic biochemistry of physiological processes including the defining of the physical and biochemical structure of DNA, the biochemistry of metabolic processes and the manipulation of these to treat genetic disorders became many researchers primary objective.

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