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Genetic Disease is
defined as any of the diseases and disorders that are caused by
mutations in one or more genes.
With the
increasing ability to control infectious and nutritional diseases
in the so-called developed countries, there has come the realization
that genetic diseases
are a major cause of disability, death, and human tragedy. Rare,
indeed, is the family that is entirely free of genetic disorder.
Almost 3,500 genetically aquired disorders have been cataloged.
Surveys suggest that approximately 1 percent of all newborns have
a single gene defect and that 0.5
percent
have gross chromosomal anomalies
severe enough to produce serious physical defects and mental retardation.
Of the 3 to
4 percent of newborns with birth defects, surveys indicate that
at least half suffer a major genetic contribution. A minimum of
5 percent of all conceptions that evidence themselves have gross
chromosomal anomalies, and 40 to 50 percent of spontaneous abortions
involve chromosomally abnormal embryos.
About 40
percent of all infant mortality is due
to
genetic disease; 30 percent of pediatric
and 10 percent of adult patients require hospital admission because
of genetic disorders. Medical investigators estimate that genetic
defects-albeit often minor-are present in 10 percent of all adults.
The hopeful aspect of these grim figures is that by utlizing medical
genetics we can prevent these conditions or lessen their effects
with early diagnosis and treatment.
Lee
M. Silver
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