What are genetic diseases?

Genetic diseases are those caused by abnormalities in one’s genetic material. These abnormalities can range from miniscule (minimal or no effects) to major (have profound effects) and everywhere in between. Genetic disorders can be inherited from parents or caused by acquired mutations. Mutations can be random or caused by an environmental exposure.
Some examples of inherited genetic disorders include: cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington’s disease and hemochromatosis. Chromosomal abnormality-related disorders include: Down syndrome, Turner syndrome and Klinefelter syndrome.
Examples of genetic diseases caused by a combination of inherited and environmental mutations include: heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer and obesity.
"Genetic diseases" are those that can be inherited from our parents or sometimes can arise with new changes in one's DNA at the time of conception.  Some diseases are single-gene disorders that arise from a problem in one gene, for example cystic fibrosis. Genetic diseases can involve entire or partial sections of ones chromosomes.  Chromosomes contain many genes.  For example, Down syndrome occurs as a result of an extra chromosome 21.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.