Questions about rare diseases?
Questions about rare diseases?
GARD's Mission
At the Genetic and Rare Diseases (GARD) Information Center, our mission is to support people living with a rare disease and their families by providing free access to reliable, easy-to-understand information in English and Spanish. Improving access to information on rare diseases will help GARD deliver the most up-to-date research and resources to more people faster.
Established by the Rare Diseases Act of 2002, GARD is a public health resource managed by the National Center for Advancing Translational Sciences (NCATS), a part of the National Institutes of Health (NIH), the federal government agency responsible for biomedical research in the United States. 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. Learn more about NCATS and translational science.
There is no advertising on this website, and GARD does not endorse or promote any companies, products, or services.
Established by the Rare Diseases Act of 2002, GARD is a public health resource managed by the National Center for Advancing Translational Sciences (NCATS), a part of the National Institutes of Health (NIH), the federal government agency responsible for biomedical research in the United States. 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. Learn more about NCATS and translational science.
There is no advertising on this website, and GARD does not endorse or promote any companies, products, or services.
Improving Access to Rare Disease Information
At GARD, we work to address the public health challenges facing the rare disease community by changing how information is shared. We gather information from different research databases to create a simplified summary of known causes, diagnostic resources, and information on where you may find a community of support. By turning the data into easy-to-understand facts for you to use, we work to improve access to rare disease information.
Here we identify a few of the ways GARD helps you navigate through information on rare diseases.
Here we identify a few of the ways GARD helps you navigate through information on rare diseases.
Timely Data
GARD gathers information from global databases to provide you with the most up-to-date facts and figures about rare diseases.
Inclusive Methodology
GARD extends the same effort to providing information on all rare diseases, even those not widely identified or understood.
Actionable Information
GARD provides you with the public health information you may need to find a diagnosis, manage your care, or build a community of support.
Simplified Approach
GARD translates scientific language developed for clinicians and researchers into easy-to-understand information to help you communicate with your health care providers.
Improving Access to Rare Disease Information
At GARD, we work to address the public health challenges facing the rare disease community by changing how information is shared. We gather information from different research databases to create a simplified summary of known causes, diagnostic resources, and information on where you may find a community of support. By turning the data into easy-to-understand facts for you to use, we work to improve access to rare disease information.
Here we identify a few of the ways GARD helps you navigate through information on rare diseases.
Here we identify a few of the ways GARD helps you navigate through information on rare diseases.
Timely Data
GARD gathers information from global databases to provide you with the most up-to-date facts and figures about rare diseases.
Actionable Information
GARD provides you with the public health information you may need to find a diagnosis, manage your care, or build a community of support.
Inclusive Methodology
GARD extends the same effort to providing information on all rare diseases, even those not widely identified or understood.
Simplified Approach
GARD translates scientific language developed for clinicians and researchers into easy-to-understand information to help you communicate with your health care providers.
GARD Website FAQs
A rare disease is a disease or condition that impacts fewer than 200,000 people in the U.S. There are more than 10,000 known rare diseases that affect about 1 in 10 people (or 30 million people) in the U.S., according to the Orphan Drug Act.
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 fewer than 1 in 2,000 people.
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 fewer than 1 in 2,000 people.
A rare disease is a disease or condition that impacts fewer than 200,000 people in the U.S. There are more than 10,000 known rare diseases that affect about 1 in 10 people (or 30 million people) in the U.S., according to the Orphan Drug Act.
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 fewer than 1 in 2,000 people.
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 fewer than 1 in 2,000 people.
GARD utilizes selection criteria to decide which rare diseases are included on the website. Criteria are based on the availability of published and curated research information from rare disease research databases. Some rare diseases may not be represented by a webpage on GARD due to the limited availability of research information, or source information may not yet be available in GARD's database.
To provide information for as many diseases as quickly as possible, GARD's webpages are populated with information in bulk, rather than one disease page at a time. Though not all diseases are currently featured on GARD's website, our list of rare diseases can be downloaded here: GARD Rare Disease List_September2024.csv
If you are unable to find information on the disease you are looking for, contact one of our Information Specialists for help.
The information provided on this website reflects GARD's commitment to its role as a public health resource. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH and are not regulatory statements of the U.S. Food and Drug Administration (U.S. FDA). Learn more about rare diseases at U.S. FDA.
To provide information for as many diseases as quickly as possible, GARD's webpages are populated with information in bulk, rather than one disease page at a time. Though not all diseases are currently featured on GARD's website, our list of rare diseases can be downloaded here: GARD Rare Disease List_September2024.csv
If you are unable to find information on the disease you are looking for, contact one of our Information Specialists for help.
The information provided on this website reflects GARD's commitment to its role as a public health resource. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH and are not regulatory statements of the U.S. Food and Drug Administration (U.S. FDA). Learn more about rare diseases at U.S. FDA.
GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases.
GARD uses data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
GARD uses data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
- Orphanet is an online database of rare diseases and orphan drugs that provides aggregated data coordinated by INSERM-US14 in Paris.
- OMIM is a database of human genes and genetic phenotypes authored and edited at the McKusick-Nathans Institute of Genetic Medicine , Johns Hopkins University School of Medicine.
The information on the GARD website is collected and curated from many research databases. This data is commonly obtained from medical literature that reports on people with the disease and research involving the disease. However, there may be too few people with a specific rare disease that seek medical care or receive a diagnosis. In such cases, little information may be known about the disease, and sections on the GARD website may be missing or incomplete.
When there is limited information available, GARD can still help you. When people contact us with complex health concerns, we often first suggest they consider contacting doctors at a larger university or academic health center. These centers tend to have the latest technology and treatments. Healthcare providers at universities and academic health centers often work together with others to diagnose and treat patients; they may also have doctors who are involved in clinical trials.
It is common for a person affected with a rare disease or a complex health condition to search worldwide for available treatments and research. Advice on the treatment or care of a patient should be obtained through consultation with a physician who has examined that patient and is familiar with that patient's medical history. Though GARD cannot offer medical advice and is not directly involved in patient care or research, we aim to connect you with helpful resources. Please contact GARD for additional assistance.
When there is limited information available, GARD can still help you. When people contact us with complex health concerns, we often first suggest they consider contacting doctors at a larger university or academic health center. These centers tend to have the latest technology and treatments. Healthcare providers at universities and academic health centers often work together with others to diagnose and treat patients; they may also have doctors who are involved in clinical trials.
It is common for a person affected with a rare disease or a complex health condition to search worldwide for available treatments and research. Advice on the treatment or care of a patient should be obtained through consultation with a physician who has examined that patient and is familiar with that patient's medical history. Though GARD cannot offer medical advice and is not directly involved in patient care or research, we aim to connect you with helpful resources. Please contact GARD for additional assistance.
GARD defines a patient organization as one that creates a community of support by connecting people living with the same rare disease, their families, and caregivers to others like them.
To be included on GARD's website, a patient organization must:
A patient organization may be excluded from GARD's website if:
To be included on GARD's website, a patient organization must:
- Be associated with a rare disease, group of rare diseases, or rare forms of non-rare diseases.
- Have an open and publicly accessible website.
- Be transparent by providing the source(s) of any information or advice provided.
A patient organization may be excluded from GARD's website if:
- It is an organization related to a non-rare disease.
- It promotes poor medical information.
- It is ONLY a fundraising organization or a trust for one or several patients with no advice provided.
- It is ONLY a blog or forum.
- It is ONLY advertising pharmaceuticals or products.
- It ONLY has a website accessible through social media platforms.
GARD's website is built with high-quality health information that is easy to understand.
GARD links to non-governmental websites if they meet a standard set of criteria. Staff use this list as a guide to determine if a resource will be included on GARD's website. GARD maintains a separate set of criteria for patient organizations.
Resources on GARD
- The organization's 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 resources to 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 website provides informational and/or educational content that is unbiased. GARD does not link to websites that only 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 organization does not only solicit donations.
- Social media groups are not considered due to the uncertainty of reliable information.
- If GARD links to a non-governmental website 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.
- The website is consistently available.
- 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.
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.
- 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.