• About GARD

GARD's Mission

Established by the Rare Diseases Act of 2002, the Genetic and Rare Diseases (GARD) Information Center is a public health resource that aims to support people living with a rare disease and their families with free access to reliable, easy to understand information, in English and Spanish. There is no advertising on this website, and GARD does not endorse or promote any companies, products, or services.

GARD is managed by the National Center for Advancing Translational Sciences (NCATS), a part of the National Institutes of Health (NIH) and the Federal government agency responsible for biomedical research. By advancing access to research information for rare diseases, GARD is using Translational Science to improve the research process to get more treatments to more people more quickly. Learn more about NCATS.

FAQ

What is a rare disease?
The Orphan Drug Act defines a rare disease as a disease or condition that impacts less than 200,000 people in the U.S.

Other countries may have their own official definitions of a rare disease. For example, the European Union defines a disease as rare when it affects less than 1 in 2,000 people.

There are about 7,000 known rare diseases and collectively, about 1 in 10 people (or 30 million people) in the U.S. have a rare disease.
Which rare diseases are found on GARD?
The information provided on this website reflects GARD’s role as a public health resource. Not all rare diseases are represented by a disease page, particularly if other information sources exist. For example, the CDC maintains public health information for rare infectious diseases.

GARD utilizes selection criteria to decide which rare diseases are included on the website. These criteria are based on the availability of published and curated research information. They are not policy statements of NCATS or the NIH and are not regulatory statements of the FDA. Learn more about Rare Diseases at FDA. 

GARD Website Policies

GARD collects and curates data from the following databases: 

The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more. Data from the National Center for Biotechnology Information 's MedGen is used to provide genetic testing information available for a disease. Data from the National Library of Medicine 's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing. In addition, the following resources were referenced for overall content development:
GARD Website Policies
GARD collects and curates data from the following databases: 

The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more. Data from the National Center for Biotechnology Information 's MedGen is used to provide genetic testing information available for a disease. Data from the National Library of Medicine 's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing. In addition, the following resources were referenced for overall content development:
The information on the GARD website is collected and curated from many databases. This data is commonly obtained from medical literature that reports on people with the disease and research involving the disease. There is often a small number of people with each specific rare disease. These people may not seek medical care and may not receive a diagnosis. Also, many people with rare diseases are not reported in the medical literature. Therefore, little information may be known about the disease, and sections on the GARD website may be missing or incomplete.

More information may be available in the future as research increases for each disease.
The GARD website collects and curates information from reliable research and medical databases that meet certain criteria. The information in these databases and on the website is updated on a regular basis. Because we are a service provided by NCATS, we are limited as to the resources we can use. We are unable to collect personal information or experiences from GARD website users.

People who are interested in sharing their experiences with rare diseases are encouraged to contact the patient organizations listed on the Living with the Disease tab of each disease page.

The Genetic and Rare Diseases (GARD) Information Center website is built with high-quality health information that is easy to understand.

GARD links to selected non-governmental websites. Staff decide whether to link to a given organization or resource using the following criteria as a guide:

Organizations and Resources on GARD

  • The website offers a description of the organization, including its mission, structure, governance, and policies. The organization's mission must align with the mission of GARD to provide accurate health information and the intended audience of GARD (patients with a rare disease, their families, and caregivers).
  • The organization provides accurate, science-based information that complements or enhances the health information found on GARD.
  • The source of the content is trustworthy and transparent.
  • The primary purpose of the website is educational, and the information is unbiased. GARD does not link to websites whose purpose is to sell or promote a product, service, or belief.
  • The information provided is easy to understand, easy to navigate, and well organized.
  • The website has original content.
  • The website links only to reliable sources that meet GARD guidelines for links or other clearly stated guidelines established by the website. Links are properly maintained.
  • The organization provides at least one GARD-defined resource or service and does not only solicit donations.
  • Social media groups will not be considered due to the uncertainty of reliable information.


Website Advertising

  • Preference is given to pages with no advertising. In the few cases where GARD links to a page with advertising, the advertising must not suggest commercial influence on the health content.
  • If the website has advertising, it displays an advertising policy. There must be a clear separation between educational content and advertising or sponsorship. Advertisers or sponsors must not play a role in selecting or editing health information.
  • GARD will not link to organizations and web resources whose presentation or content suggests or implies that GARD or the National Institutes of Health endorse the products or services.
  • Pharmaceutical company names or logos may be present when illustrating sponsorship/partnership.
  • The medical information provided is not biased toward brands that manufacture treatments or diagnostic tests. Brand name drugs or devices may be present if there is only one of relevance, or if all available are mentioned.


Website Availability and Maintenance

  • The website is consistently available.
  • The website includes contact information for staff who maintain the website.
  • Information is current. In most cases, this means that a last updated or last reviewed date is included.
  • If the website requires users to register to access information, registration should be free.


Videos
In addition to the criteria for websites listed above, videos should meet these guidelines:

  • Videos are in a format that is playable on most desktop and mobile devices.
  • Videos do not auto-play when a web page is opened.
  • Videos do not have flashing lights or strobe effects.
  • Preference is given to videos that include closed captioning or transcripts, and on-screen text or graphics that don't overlap with captioning.
  • Videos will not be directly streamed on GARD. Only links to the videos will be displayed.


User Privacy

  • If a website or organization collects personal information using email, forms, or surveys, it clearly displays a privacy policy that explains how information collected from users remains private and confidential.