Genetic Disorders

There are many different organizations and resources available to help families learn more about genetic disorders. Listed below are a list of organizations and common genetic disorders in the United States.

What is a genetic disorder?

A genetic disorder is a medical condition that is caused by a change in a gene or chromosome of an individual. There are more than 6,000 known genetic disorders. There are several genetic disorders that are commonly screened for in the United States. You can find more information on genetic disorders from the following organizations/websites.


Genetic and Rare Diseases (GARD) Information Center

GARD knows that understanding medical terms and technology related to a genetic disorder can be difficult. The Center has developed a glossary of medical terms to help patients and their families understand the language used.

National Organization for Rare Disorders (NORD)

NORD is an organization that provides resources for patients and families with rare disorders. Here you can find webinars, educational resources, a list of rare disorders, and other materials to assist with learning more about rare disorders.

Newborn Screening Disorder Fact Sheets

Provides information on disorders screened via the newborn screening program. These fact sheets were developed for families who want to learn more about a disorder.

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