Genetic diseases develop due to changes in one or several genes or chromosomes. You might experience various symptoms, from developmental delays and visible deformities to chronic illnesses and impaired function, but these vary significantly among different diseases. Some genetic diseases can be fatal, but treatment and management may include medication, therapy, or surgery and offer a range of outlooks. People with some genetic diseases may need lifelong additional support with mobility, social interaction, or daily function.
FAQ
What causes genetic diseases?
Genetic diseases develop due to changes called mutations in genes or chromosomes. People may inherit genetic mutations from parents’ genes, or they may develop due to environmental factors like exposure to chemicals or radiation, smoking, or excessive ultraviolet light exposure.
Are genetic diseases inherited?
You might inherit a genetic mutation from one or both parents, but many genetic diseases develop spontaneously. Carrying an inherited mutation doesn’t mean you’ll definitely end up with that genetic disease, either.
How are genetic diseases diagnosed?
Lab tests can show if you, your developing fetus, or your newborn have the gene mutations linked to a specific condition. People with a family history of a genetic disease may wish for all family members to undergo testing.
Can genetic diseases be cured?
No cure is available for most genetic conditions, but some have treatments that can slow progression or reduce the disease’s impact on daily life. The treatment depends on which disease you have and how severe it is.
What is genetic counseling?
Genetic counseling provides information about genetic diseases. It gives you a picture of your risk of developing a disease and helps you understand how likely you are to pass the gene mutations along to children if you’re planning a family.
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Joy Tanaka, PhD
Medical Reviewer
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