Rare disease databases

Below are links to several online databases of rare diseases. Each of these databases contain a large amount of information on many different rare and non-rare diseases. The information varies from simple overviews of disease types, symptoms and treatments, to complex scientific data that can be overwhelming for non-scientists. We have tried to list the databases below in order of complexity with the simplest first, though for some diseases this may not be accurate. We suggest you start at the beginning and work through until you have found the information you require.

Orphanet

Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access is free of charge. It provides information on any disease that occurs less often than 1 in 2,000 in the population, whether genetic, auto-immune, infectious, cancers or diseases with no accurate diagnosis. It has most of the numerous rare diseases described in its database.

Orphanet offers services adapted to the needs of patients and their families, health professionals and researchers, support groups and industry. It is funded by a range of French Government agencies and the French Muscular Dystrophy Association. Management of the database is supervise by INSERM, the French Health and Research Council, and the site presents reliable information. Go to Orphanet.

NORD: National Organization for Rare Disorders

NORD is an American voluntary health organization dedicated to helping people with rare diseases and assisting the organisations that serve them. It is committed to the identification, treatment, and cure of rare disorders through programmes of education, advocacy, research, and service. You will find access to support sites, general information, developmental drugs and a database of medical reports on more than 1,200 rare diseases.

NORD's Rare Disease Database reports are written or reviewed by physicians for accuracy and reliability. Many of the general resources will only be relevant to American residents, but abstracts for each of the excellent rare disease entries can be viewed online by all users. Subscription access or online purchasing is required to access the full article, but New Zealand residents can obtain a copy of the article that relates to their condition, from selected NZ organisations that subscribe to NORD. Go to NORD.

Genetic and Rare Diseases Information Center (GARD)

The Genetic and Rare Diseases Information Center (GARD) is operated by two agencies of the U.S. National Institutes of Health, The Office of Rare Diseases Research and the National Human Genome Research Institute. The database offers a variety of information on rare disease and terms related to rare diseases including information on current research, genetic testing, support groups and recent publications. Go to GARD.

OMIM: Online Mendelian Inheritance in Man

This site is excellent for information on the causes and symptoms of all known genetic disorders, including common ones, and provides access to information on the vast majority of rare diseases. Access to the site is free to all users. It is a complex site developed for scientists and medical specialists and contains both general and highly technical information.

OMIM is a database developed for the internet by the National Centre for Biotechnology Information, at the US National Library of Medicine. It is a catalogue of human genes and genetic disorders, authored and edited by Dr. Victor A. McKusick, his colleagues at Johns Hopkins University and relevant international experts. It is highly regarded for reliability and accuracy, though it is a complex site. Go to OMIM.

GeneReviews

Excellent descriptions of genetic diseases are provided in the GeneReviews database, which is available through the website Genetic Testing Registry. Information is comprehensive, and access is free to all users. Technical jargon is avoided as much as possible, but a glossary is provided where that is unavoidable. It is therefore an excellent resource for the average person as well as the professional. After conducting a search, click on the coloured “Reviews” box to the right of the name of the disease you are interested in to access the information.

Genetic Testing Registry is funded by the American National Institute of Health (NIH), the National Health Resources and Services Administration (NHRSA) and the United Sates Department of Energy (DOE). The site provides current, reliable information on genetic testing and its use in diagnosis, disease management, and genetic counselling. The use of genetic services in patient care and personal decision making is actively promoted. Go to GeneReviews.

eMedicine

eMedicine has probably the most comprehensive online database of disease-specific information that is both freely available to all users and likely to be readily understood by professionals and lay-readers alike. It provides over 7,000 peer-reviewed articles covering a very wide range of diseases, common and rare, genetic and non-genetic.

eMedicine is published by eMedicine.com Inc, a private company dedicated to providing up-to-date, peer-reviewed medical information. The free availability online of their disease database, reflects the commitment of eMedicine to disseminate knowledge to the widest possible audience, including individuals, groups, or populations that may not otherwise have access to such medical information. The peer review process ensures reliable information and the material is regularly reviewed to ensure it is up to date. Go to eMedicine.

PubMed

PubMed is an enormous medical library, providing access to over 12 million MEDLINE citations (medical journals and articles put online) and additional life science journals, dating back to the mid-1960s. PubMed includes links to many sites providing full text articles, science and medical textbooks and other related resources.

Access to the PubMed database and abstracts of articles is open to all users, but subsequent access to the full-text articles may be restricted to subscription-only or by purchase. There is a risk of being overwhelmed with the number of articles related to your disorder, and many will be highly technical as they are written for experts. However the abstracts may be sufficient information on the article, for lay-readers.

Pubmed was designed by the National Center for Biotechnology Information, at the US National Library of Medicine, to provide access to biomedical literature. It is continually updated and is highly regarded as a reliable site, though it is a complex site. Go to PubMed.

Swedish Information Centre for Rare Diseases

The Swedish Information Centre for Rare Diseases contains information on several hundred rare diseases. This database may be more useful for very rare disorders, but does include a good amount of consumable information. Most of the conditions listed are likely to also be found in the other databases listed on this page. Go to the Swedish Information Centre for Rare Disease database.

James