How mutations, or variations, can lead to genetic conditions

There are approximately 20,000 genes in the human genome. A mutation, or permanent variation, in just one gene can lead to a genetic condition. Knowing what causes a genetic condition is the first step in understanding how, potentially through ongoing research in gene therapy, healthcare providers might be able to treat these conditions differently.
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BioMarin is a global biotechnology company focused on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with serious and life-threatening rare genetic diseases.
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