Advances in molecular biology have allowed the genetic abnormality to be defined in an increasing number of diseases. This, in turn, permits determination of who has or hasn't inherited the genetic defect in an affected family. This leads to improved knowledge of the spectrum of the disease, of its natural history, and the diagnosis of the disease prior to the development of symptoms. Hence, therapies may be instituted early in childhood to prevent or modify the disease. There is also the promise of genetically engineered therapies. Exclusion of the disease allows family members to train for careers that would be contraindicated if at a later age they were to develop the disease. The diagnosis of the genetic abnormality may, however, have serious psychosocial consequences, such as guilt feelings for having passed on disease to their children and inability to obtain insurance among others. The problems may be aggravated if the disease is potentially lethal or severely disabling or for which there is no cure or good therapy at present. Therefore, our studies in hypertrophic cardiomyopathy, the most common cause of sudden death in otherwise healthy young individuals, such as athletes, are being performed side by side other studies to determine the risk benefit ratio of such studies.
After receiving his M.D. degree from Edinborough University in Scotland, Lameh Fananapazir trained in electro-physiology at Duke Medical Center. He is currently Co-Chief of the Inherited Cardiac Diseases Section of the cardiology Branch at the National Heart and Blood Institute at NIH in Bethesda, Maryland.
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