Rare diseases affect an estimated 25 to 30 million Americans.

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Understand Rare Diseases

Learn about the body, genetics, and potential causes

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Clinical Studies and Trials

Find information about clinical studies and patient registries

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Care and Support

Find information to help build your care team and improve your quality of life

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Rare Disease Day at NIH

Rare Disease Day® takes place worldwide, typically on or near the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients’ lives. Since 2011, NCATS has sponsored Rare Disease Day at NIH as part of this global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect and NIH collaborations that address scientific challenges and advance research for new treatments.

 

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Discover possible causes of rare diseases
How metabolism, body functions, or infections may factor in
Discover possible causes of rare diseases
How genetics may impact you
About 80% of rare diseases are genetic, making genetics essential for diagnosis, treatment, and research.
How genetics may impact you
Get more genetics information at Medline Plus
MedlinePlus is an online health information resource for patients and their families and friends.
Get more genetics information at Medline Plus

Genetic and Rare Disease Information Center (GARD)

GARD is a program of the National Institutes of Health that provides free access to reliable, easy-to-understand information about genetic and rare diseases.

Established by the Rare Diseases Act of 2002, GARD is a public health resource managed by the National Center for Advancing Translational Sciences (NCATS). The National Human Genome Research Institute (NHGRI) with NIH also contributes funds to the GARD program. GARD emphasizes translational science, or the field of science dedicated to turning observations in laboratories, clinics, and the community into innovations to improve public health. 

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