Rare Genetic Disorders

Genetic disorders occur when a mutation affects the genes. Carrying the mutation doesn’t always mean you’ll end up with a disease. There are many types, including single-gene, multifactorial and chromosomal disorders.

Genetic disorders may also cause rare diseases. This group of conditions affects smaller than 200,000 people in the U.S. According to experts, there may be as many as 7,000 of these diseases.

Rare genetic disorders include:

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    14th World Congress on Rare Diseases and Orphan Drugs

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