Summary and Prospects

The history of the study of human genetic diseases is not unlike that of any other area of medical science. It has been marked by periods of superstition and pseudoscience as well as by flashes of brilliant insight such as those of Maupertius, Adams, and Garrod. It has also been characterized by an exponential increase in fundamental understanding coupled with technological and methodological breakthroughs, as was clearly exemplified by sickle-cell anemia and Down syndrome. The recent development of recombinant DNA technology has ushered in a revolution in the study of human genetic disease, a quickening of the pace of discovery matched only by that seen when Mendel's laws of heredity were revealed in 1900.

The future of medical genetics is very bright indeed. Systematic screening of the human genome has revealed hundreds of inherited DNA sequence variants, or RFLPs (Willard et al. 1985; O'Brien 1987). Exploitation of these markers has made it possible to establish genetic linkage and chromosome map locations for a large number of hereditary human illnesses including Duchenne muscular dystrophy (Davies et al. 1983; 31020), Huntington's disease (Gusella et al. 1983; 14310), cystic fibrosis (Tsui et al. 1985; 21970), adult polycystic kidney disease (Reed-ers etal. 1985; 17390), retinoblastoma (Cavenee et al. 1985; 18020), familial polyposis (Bodmer et al. 1987; 17510), manic-depressive or bipolar illness (Egeland et al. 1987; 30920), and neurofibromatosis (Barker et al. 1987; 16220). Moreover, the genes themselves have been cloned for retinoblastoma (Friend et al. 1986) and Duchenne muscular dystrophy (Monaco et al. 1986), as well as for chronic granulomatosus disease (Royer-Pokora et al. 1986; 30640). These successes have made the production of a genetic map of the entire human genome, first suggested by D. Botstein and colleagues (1980), not just a desirable goal but a feasible imperative. Much of this work has already been accomplished (see Donis-Keller et al. 1987; White 1987), but much more must be done. Clearly, the day of an exact science of molecular medical genetics has dawned and with it has come, after 10,000 years, the potential for treating and even curing genetic diseases (Anderson 1984).

Eric J. Devor

This work was supported in part by Grants MH 31302 and AA 03539 from the National Institutes of Health. Jeanette A. Sharif typed the manuscript and Roberta Rich provided the illustrations.

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