Health & Medical Cardiovascular Health

What Is a Genetic Disease?

Updated June 09, 2015.

Definition: A genetic disease is one that is transferred from one or both parents to one or more of their children because of specific abnormalities (mutations) in their genes.

Some genetic diseases can be easily detected at birth, but others may take many years to be diagnosed.

Also Known As: hereditary or familial disease

Examples: Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene.

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