From Ethereal to Material: Abstract Origins of Practical Genomic Analysis
Aug 26th, 2010 by Neil Greenspan
Since the announcement, approximately ten years ago in June of 2000, that a first draft of the (almost) complete nucleotide sequence of a human genome had been assembled, much interest has been directed to the ways in which genomic information can facilitate investigation into the evolutionary origins of humans and their diseases as well as to the ways in which this new knowledge can be put to practical use in medicine and other fields of endeavor. For example, just a few months ago, James Lupski and colleagues published an article (2010) in The New England Journal of Medicine that illustrated the potential of whole-genome sequence determination of a proband and more focused genotyping of family members to identify the genotype responsible for a disease phenotype (for the curious, Charcot-Marie-Tooth disease, a neuropathy) when many candidate genes had already been identified by other methods.
A review in Nature (Witkowski, 2010), of a new book reprising the history of the initial sequencing of the human genome, notes that key antecedents to the genome project included such developments as restriction enzymes, analysis of restriction fragment length polymorphisms, and polymerase chain reaction. What has not been much remarked upon is how the current range of genomic applications to both basic research (including those related to evolutionary medicine) and clinical medicine can be traced back to some lines of inquiry that were primarily initiated by the desire to find answers to abstract questions or clarify abstruse concepts, i.e. research directions motivated by curiosity. These questions or concepts were not originally regarded as having much whatever to do with such practical concerns as reducing the suffering associated with human diseases. Three individuals and their intellectual quests are especially pertinent and illustrative. Continue Reading »

