What are genetic diseases?Genetic diseases are diseases that are inherited. They can result in a wide variety of illnesses, including diabetes, hypertension, cancer, growth disorders, emotional and psychiatric disorders, hormone deficiencies or excesses, and diseases of aging persons.
Why are they important?By age 60, most people in the United States are affected by some kind of illness with a genetic component. These illnesses cost billions of dollars in health care expenditures and lost wages. Information leading to the prevention or cure of any one of these diseases would save large amounts of money and, more importantly, improve the quality of life.
What is the role of Endocrinology?The field of molecular endocrinology has witnessed a decade of explosive growth of new information from scientists laboratories. The cellular pathways through which most hormones act are now understood. Thus, we now know how hormonal signals are transferred, through specific receptors, to enzymes and genes within the cells that regulate cell function and growth.
Understimulation by hormones results from inherited defects in critical hormone receptors and can result in a multitude of chronic medical conditions such as growth failure, mental retardation, kidney problems, sexual disorders, infertility, and cancer.
Similarly, overstimulation by the same hormones can lead to other chronic conditions such as hypertension, eating disorders, sexual disorders, cancer, and osteoporosis. Knowledge about hormonal receptors is already being used to diagnose and treat women with breast cancer with drugs that block the actions of the hormone receptors responsible for cancer cell growth.
Designing drugs that poison cancer cells by entering the cell through membrane receptors for hormones offers great future promise for cancer treatment. Molecular endocrinologists have also discovered the principles of gene regulation. This knowledge may allow us to perform gene therapy for a host of human illnesses, including pernicious anemia, cystic fibrosis, immune disorders, rheumatoid arthritis, brain disorders such as Alzheimer’s and Parkinson’s diseases, cancer, and even heart failure. This type of gene therapy could also be used to deliver medicines more effectively and far less expensively.