ABSTRACT
The pioneering report of James Watson and Francis Crick describing the helical structure of DNA spurned an upsurge of biomedical research focusing on the composition of DNA, RNA and proteins and their role in health and disease that continues today. This “molecular revolution” has markedly influenced understanding of the pathophysiology of a diverse collection of disease states ranging from cystic fibrosis (CF), inborn errors of metabolism and immunodeficiencies to cancer, cardiovascular disease and diabetes. Rapid development of recombinant DNA technology prompted sequencing of the human genome and identifying genotype-phenotype relationships in human disease. Although these efforts have produced highly sophisticated, extremely sensitive diagnostic tests, the development of successful molecular therapies based upon this expanded knowledge of disease pathogenesis is still in progress.
