Question 1

 

Gregor Mendel described the segregation of alleles and the independent assortment of (unlinked) genes more than 150 years ago, and those fundamental principles governing inheritance were independently rediscovered by several others roughly 50 years later. While the history of science is certainly a good reason to study a phenomenon, there are more compelling reasons than history alone to continue studying Mendelian genetics today. Many of those reasons were highlighted by this year’s contest winners. For instance, the chemical sequence of DNA tells us very little about how genes operate—how they are turned on and off in precise combinations to give rise to the traits that make us human. Geneticists must study the molecular details of gene structure and expression in the context of varying phenotypes and family histories to piece together the roles that different genes play in development and disease. This is one reason that a detailed family history, and what it can reveal about the presence of Mendelian disease, remains one of the most important pieces of information a physician can collect.