JG Hall

Molecular genetics has revolutionized our ability to detect disease and disease predisposition. Molecular techniques allow rapid diagnosis of infectious disease, identifies the best therapy for malignancies and identifies individuals at high risk for disease from environmental exposures. In general, specific genetic diseases are quite rare but by studying them it has been possible to learn about normal biochemical and developmental pathways and thus provide much greater insight into normal biological mechanisms. These powerful techniques have also identified new mechanisms of disease including genetic instability and DNA amplification, parent of origin effects including anticipation and imprinting, the two hit theory of cancer, and the orchestration of early human development. Three to five per cent of all children are born with some type of major congenital anomaly. Another five to ten per cent of children will have an illness related to a genetic predisposition. Research and education related to the advances occurring in genetics are essential to child health care in the 21st Century.