Genetic Susceptibility to Birth Defects in Humans: From Gene Discovery to Public Health Action

Genetic Susceptibility to Birth Defects in Humans: From Gene Discovery to Public Health Action

Genetic Susceptibility to Birth Defects in Humans: From Gene Discovery to Public Health Action

With the relentless progress of the Human
Genome Project, by the year 2001, most–if not
all–of the estimated 100,000 human genes will
have been found (Collins, ‘98). Close to 10,000
genes have already been cataloged (Online
Mendelian Inheritance in Man, ‘98), and tests
for more than 700 genes are already available
in medical practice (Pagon, ‘98). The genes
identified thus far range from those associated
with rare metabolic disorders to those associated with common diseases including cancer
and adult-onset conditions. Genetic variants
confer increased susceptibility to a variety of
environmental factors (including chemical,
infectious, physical, social, psychological, behavioral, and nutritional factors), thus increasing the risk of carriers for many diseases including birth defects.

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