Agenetic disease is any disease caused by an abnormality in the genetic makeup of an individual.

The genetic abnormality can range from minuscule to major -- from a discrete mutation in a

single base in the DNA of a single gene to a gross chromosomal abnormality involving the

addition or subtraction of an entire chromosome or set of chromosomes. Some people inherit

genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or

group of genescause other genetic diseases. Genetic mutations can occur either randomly or due
to some environmental exposure.
A genetic disease or disorder is the result of changes, or mutations, in an individual’s DNA. A
mutation is a change in the letters (DNA sequence) that make up a gene. This is sometimes
referred to as a “spelling” mistake. Genes code for proteins, the molecules that carry out most
of the work, perform most life functions, and make up the majority of cellular structures. When
a gene is mutated so that its protein product can no longer carry out its normal function, a
disorder can result.

Genetic diseases can be inherited because they are mutations in the germ cells of the body—the
cells involved in passing genetic information from parents to offspring. Genetic diseases can
also result from changes in DNA in somatic cells, or cells in the body that are not germ cells.

Some genetic diseases are called Mendelian disorders—they are caused by mutations that occur
in the DNA sequence of a single gene. These are usually rare diseases; some examples are
Huntington’s disease and cystic fibrosis. Many genetic diseases are multifactorial—they are
caused by mutations in several genes compounded by environmental factors. Some examples of
these are heart disease, cancer, and diabetes.