Gene Research: The Promise of Genetic Medicine

We are in the midst of a major revolution in medicine that is changing the paradigm for health care. The explosions in human genetics and the rapid progress toward the goal of sequencing the human genome will open up unparalleled frontiers for understanding the cellular and molecular changes underlying disease, and with it will come new targets for therapy.

The current paradigm for treatment of disease is to see a patient when he or she manifests with signs and symptoms and then to institute appropriate diagnosis and therapy. New advances in genetic medicine will allow the earlier description of the patterns of gene expression which underlie the natural history and process of cellular dysfunction, leading to injury, prior to patients presenting with signs and symptoms. Thus, diseases will be diagnosed much earlier and this will allow preventive therapies to be undertaken to halt the progression of the illness or to slow down its course.

Prior to studying patterns of disease in humans, the best way to define the natural history of an illness is to look at its cellular and molecular characteristics in animal models such as in transgenic mice. These models provide unique insights into the cellular mechanisms underlying disease and this information can be rapidly transferred to human diseases with the accompanying improvement in understanding and more rational approach to therapies.

Medical research will be defined as that which was performed before the Human Genome Project and that which occurred after. The field of human molecular genetics is in its earliest stages of development and will reach maturity in the next century. Just as physics heralded the technological advances in the 20^th century, so human genetics will be the catalyst for new insights into disease and new approaches to therapy in the 21^st century. Using these approaches, diseases for which there is currently no rational approach to therapy will be addressed with new approaches based on the insights into the fundamental mechanisms in these diseases. This will lead to new therapies focused directly on the disease mechanism, and is likely to lead to therapies which are more effective and associated with fewer side effects.

This is indeed a very exciting time for scientists in this field and for patients suffering from many incurable illnesses who await these discoveries with much hope and also with trepidation.