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Rare Diseases

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Genetic Testing: How it is Used for Healthcare - (PDF)

You may want to learn about genetic testing if you have a family history of inherited diseases or belong to an ethnic group with a higher risk of a specific inherited disease. Read this fact sheet to... Details >

Office of Rare Diseases Research, National Institutes of Health

NORD’s Patient Assistance Programs  External Link

Find Patient Assistance Programs that help patients with rare diseases obtain life-saving or life-sustaining medication they could not otherwise afford. ... Details >

National Organization for Rare Disorders  External Link

Patient Organizations Database  External Link

Enter an organization name or the disease name to search for organizations that help people with rare diseases. ... Details >

National Organization for Rare Disorders  External Link

Prader-Willi Syndrome Support  External Link

Call 800-926-4797 for information and support for families after the initial diagnosis of Prader-Willi syndrome, a genetic cause of life-threatening obesity in children.... Details >

Prader-Willi Syndrome Association (U.S.A.)  External Link

Tips for Those With an Undiagnosed Condition

Can’t find answers for an undiagnosed condition? The following information may help navigate through the process of trying to obtain a diagnosis.... Details >

Genetic and Rare Diseases Information Center

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