Molecular techniques have had and are continuing to have a strong effect on clinical research and on diagnosis and screening of many endocrine disorders. To undertake research and interpret the results of others, it is important to know how and when to use molecular techniques such as Southern, northern and western blotting and the polymerase chain reaction. Knowledge of the human genome and how genes translate into proteins is required for a full understanding of the burgeoning fields of genomics and proteomics. Genetic manipulation of experimental species, which uses transgenic and gene-knockout technology, has led to important advances in determining the relationship between genes and their encoded proteins' function in the intact organism. This article describes these aspects of molecular biology, and gives specific examples of how they can be applied to clinical endocrinology and metabolism.