Overview

What is Genetics?

Genetics is a diverse subject concerned with variation and heredity in all living organisms.

Human genetics is the science of variation and heredity in human beings.
Medical genetics deals with human variation of medical significance. There is much overlap between human genetics and medical genetics.

What is Medical Genetics?
Medical genetics is a core disipline that deals with human variability and human heredity. Research and clinical approaches using molecular techniques allow insights into many diseases, and will certainly provide for more in the near future.

Because of the explosion of information, physicians and other health care providers must become conversant with the underlying concepts of genetics and learn to apply these in the clinical setting.

While genetics was once mainly involved with Pediatrics and birth defect or syndrome recognition, the molecular basis of chronic diseases such as Cystic Fibrosis, Huntington disease, Neurofibromatosis and Marfan syndrome have recently been elucidated. The complex adult onset disorders of hypertension, diabetes and heart disease are being studied and relevant causative genes are being identified and characterized.

Finally, the biology of cancer is being elucidated, including the role of tumor suppressor genes and tumor promoting genes. Identification of genes predisposing patients and their families to common cancers such as breast, ovarian, colon and prostate are leading to many exciting advances. However, many difficult ethical, legal and societal problems must be overcome to provide comprehensive health care in light of the new Genetics paradigm.

We envision this Web site as one method to provide information about Medical Genetics. Although we will strive to keep this information up-to-date, Medical Genetics is such a dynamic field that other sources of information may be required for the care and treatment of patients.