Following its slow start in the early decades of this century, the study of human genetics developed at an ever increasing pace. The tempo of its discoveries steadily accelerated, first in the increase in knowledge of normal serological, then biochemical, then immunogenetic variation. There was established a sound mathematical basis to understanding how genes behave in inheritance in individuals and in populations, and how they influence quantitative human attributes. In parallel there occurred continuing refinement of knowledge of clinical genetics, from the first recognition of inborn errors by Garrod (1902), until in the first edition of McKusick’s catalogue (1966) there were 1487 disorders listed as inherited in Mendelian fashion and in the eighth edition (1988) there were 4344. The relevance of the study in preventive and family medicine provided a continually-administered spur to further efforts, not only in research but also in the development in Britain and elsewhere of genetic services, and clinical genetics was recognised as a specialty in its own right, for it became apparent that genetic disorders made an appreciable contribution to the morbidity and mortality load of the community. Moreover very few of the numerous conditions could be treated effectively; a few could be corrected surgically, a few could be ameliorated or controlled therapeutically, but none could be cured. Prevention was the only solution.
KeywordsPrenatal Diagnosis Neural Tube Defect Duchenne Muscular Dystrophy Genetic Service Autosomal Recessive Disease
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