Genetophysiology: Using Genetic Strategies to Explore Hypoxic Adaptation

The common inheritance of the same 20,000 to 25,000 genes defines us as human. However, substantial variation exists in the human genome, which determines how each of us will respond to any given (identical) environmental stimulus. The interaction of this variation with diverse environmental stimuli makes us all different from one another. Rapid advances in the sequencing of the human genome and in the description of the common variation within it will help us identify genes and pathways that regulate hypoxic (mal)adaptation. The resultant knowledge will be of relevance not only to mountaineers: many disease states are complicated by low cellular oxygen availability, and a grasp of the mechanisms through which adaptation occurs will offer new therapeutic targets.