I have been enjoying Siddhartha Mukherjee's The Gene: An Intimate History just as summer comes to a close. Mukherjee writes beautifully. Here he describes and summarizes the genetic hunt to explain sickle-cell anemia:
It was a Rube Goldberg disease. A change in the sequence of a gene caused the change in the sequence of a protein; that warped its shape; that shrank a cell; that clogged a vein; that jammed the flow; that racked the body (that genes built). Gene, protein, function, and fate were strung in a chain: one chemical alteration in one base pair in DNA was sufficient to "encode" a radical change in human fate.
Mukherjee tells us that "genetic diseases" may be a popular misnomer as some of the disorders in this category may best be understood as the product of multiple genetic mutations. As Nathaniel Comfort reminds us, single gene disorders appear to pale in significance to genomic disorders."Ironically, the more we study the genome, the more 'the gene' recedes."
The history of genetic and genomic science and research is fascinating. What a wonderful book. What a wonderful author.