Beware of Direct Lines

The most optimistic proponents of genomics suggest that with some human genomes (almost) completely sequenced, the next step of identifying disease-associated genes will be greatly enhanced. Now, so the argument goes, it should be possible to determine the functions of these genes and their corresponding gene products. Scientists hope this step will pave the way for the identification of drugs that target these disease-related gene products and treat or even cure the associated diseases. A scena

Written byNeil Greenspan
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Consider sickle cell disease. The pattern of inheritance (autosomal recessive) of sickle cell disease was first determined by James V. Neel in 1949,1 the same year that Linus Pauling and colleagues demonstrated that hemoglobin from sickle cell patients was physically distinguishable from hemoglobin from unaffected individuals.2 Eight years later, Vernon Ingram identified the amino acid substitution (valine for glutamic acid) at position 6 in the b chain that differentiated sickle hemoglobin from wild-type hemoglobin.3 Three years after that, Max Perutz and colleagues solved the three-dimensional structure of horse hemoglobin using X-ray diffraction.4

Now, 41 years later, the pathogenesis of sickle cell disease has been revealed to depend on a critical race between an astoundingly concentration-sensitive process of sickle hemoglobin polymerization, on the one hand, and erythrocyte transit and re-oxygenation on the other. If polymerization wins the race, what follows is a sorrowful cascade of further biochemical and physiologic events involving ...

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