Download PDF Emery and Rimoin's Principles and Practice of Medical Genetics Sixth Edition by David L. Rimoin

Sinopsis

Medical genetics is the science of human biologic variation as it relates to health and disease. Clinical genetics is that part of medical genetics concerned with the health of individual humans and their families. Alternatively, clinical genetics can be defined as the science and practice of diagnosis, prevention, and management of genetic disorders. Within recent years, medical genetics has become established as a clinical specialty, as the culmination of developments that began in 1956 with the description of the correct chromosome number of the human. With the discovery of specific microscopically visible chromosomal changes associated with clinical disorders, beginning with Down syndrome in January 1959, medical genetics acquired an anatomic base. Medical geneticists now had their specific organ—the genome—just as cardiologists had the heart and neurologists had the nervous system. The anatomic base of medical genetics was greatly extended with the mapping of genes to chromosomes and specific chromosomal regions, at an ever-accelerating pace, during the past 30 years. Gene mapping has not only enlarged the base for medical genetics but, indeed, as pointed out to me by Charles Scriver (personal communication, 1980), has also provided a neo-Vesalian basis for all of medicine (1). Medical historians tell us that the anatomy of Vesalius published in 1543 was of pivotal importance in the development of modern medicine. It was the basis of the physiology of William Harvey (1628) and the morbid anatomy of Morgagni (1761). Similarly, human gene mapping constitutes an approach to the study of abnormal gene function in all diseases; the gene mapping approach has been adopted by researchers in almost all branches of medicine in the study of their most puzzling disorders. Through mapping, they have sought the basic defect in these disorders, and their clinical colleagues have used mapping information for diagnosis and carrier detection. The ultimate anatomic basis for medical genetics, the DNA sequence, is provided by the HGP. In this brief history of medical genetics, I trace the foundations of the field that were laid between 1865, when Mendel published his work, and 1956, when the correct chromosome number was reported. I then discuss the events of the past 50 years that have seen the main evolution of the discipline. Finally, I attempt some projections for the future

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