Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility

Epilogue

The study of disease begins with clinical observation of phenotype, function, and behavior, as well as changes induced by disease or birth defects. Pathology is concerned with studies at the cellular and tissue level and observations of changes that result from a disease process. Through studies in the fields of biochemistry, chemical pathology, and genetics, physicians and scientists aim to understand the dynamic mechanisms that lead to pathologies. These dynamic mechanisms include altered concentrations or structures of specific metabolites and products of gene expression, proteins, and enzymes.

There are two main cornerstone concepts of medical science. The first is that understanding aspects of the pathophysiology of a disease ...