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Issues in Science and Technology Librarianship
Fall 2007

URLs in this document have been updated. Links enclosed in {curly brackets} have been changed. If a replacement link was located, the new URL was added and the link is active; if a new site could not be identified, the broken link was removed.

Science and Technology Resources on the Internet

Rare Diseases Resource Page

Julie Quetel
M.S. student at the Graduate School of Library and Information Science
University of Illinois at Urbana-Champaign
Reference Administrator, Internet Public Library

Copyright 2007, Julie Quetel. Used with permission.

Table of Contents

Scope and Methods
Background on Rare Disorders
Dictionaries & Glossaries
U.S. Government Organizations & Web Sites
North American Organizations & Web Sites
International Organizations
Recommended Reading

Scope and Methods

The purpose of this Rare Disorders Resources page is to present an overview of rare disorders as a subject area and to create a selective bibliography of diverse resources that will aid patients and professionals. This Web site is intended to assist individuals, families, librarians, and health care professionals seeking information on behalf of patients.

The majority of Web sites provided are meta-sites that are clearinghouse resources of terminology, medical information, and links concerning many disorders rather than individual diseases. In many cases these Web sites point the end user to links that lead to Web sites devoted to specific diseases. Four of the annotated Web resources lead to information about clinical trials that are being conducted in the United States.

Information for this webliography was found by open Web searches, browsing Web resources retrieved, and following links on those Web sites.

Links to external Web sites were last updated June 8, 2007.

Background on Rare Disorders

A rare disease is defined as a disorder that affects less than 200,000 people. It is estimated that there are between 5,000 and 8,000 distinct rare diseases. Approximately 80% of rare diseases are attributed to genetic defects. Rare diseases may also occur as a result of bacterial or viral infection, and be infectious or degenerative conditions.

Until the 1963 Kefauver-Harris Amendment to the Food, Drug and Cosmetic Act, pharmaceutical companies were only required to prove that a medication was safe. After the amendment was passed drug companies were required to prove that a medicine was not only safe, but effective. This greatly increased the cost of bringing a drug to market. A medication is designated as an orphan drug when it has been developed to diagnose, treat or prevent rare disorders. These medications are called orphans because pharmaceutical companies do not expect to recover the cost of developing and marketing drugs intended for a small number of patients. The Orphan Drug Act of 1983 was the result of advocacy efforts by patient organizations and made financial incentives available to pharmaceutical companies to develop orphan medical products.

The U.S. National Institutes of Health created the Office of Rare Diseases in 1993 to promote research and collaboration but did not give it authority. The Rare Disease Act of 2002 established the Office of Rare Diseases as a federal entity able to recommend a national research agenda, coordinate research, and provide educational activities for researchers. The Rare Diseases Orphan Product Development Act of 2002 made provisions for the designation of medical products as orphan drugs. Orphan designation qualifies the sponsor of the product for the tax credits and marketing incentives of the Orphan Drug Act.

In May of 2006 the National Institutes of Health announced the beginning of the first clinical studies of the Rare Diseases Clinical Research Network. The Rare Diseases Clinical Research Network is coordinated by two agencies of the National Institutes of Health - the Office of Rare Diseases and the National Center for Research Resources. The network is comprised of ten research consortia and a central coordinating center, and has received five-year funding awards of $71 million.

The European Rare Diseases Therapeutic Initiative is administered by the French Institute for Rare Diseases Research and is funded by the European Science Foundation. The organization is a partnership between academic research institutions and pharmaceutical companies and its goal is to promote research and orphan drug development in the European Union.

Dictionaries & Glossaries

{Genetic Alliance Resource Repository}
National Library of Medicine's Medline Plus Medical Dictionary
{National Institutes of Health Office of Rare Diseases Rare Disease Terms}

U.S. Government Organizations & Web Sites provides information about federally and privately funded clinical research using human volunteers. Information about specific research trials and clinical trials in general is provided. The database may be searched by disease, location, treatment, age group as well as additional fields. Lists of clinical trials may be browsed according to condition, sponsor or recruitment status.

Department of Health and Human Services Healthfinder
Healthfinder is a web site provided by the Office of Disease Prevention and Health Promotion. Information may be found about diseases, organizations, online health questionnaires, finding a provider or facility, and weekly newsletters. Information in Spanish, as well as information for children, is provided.

Food and Drug Administration Center for Drug Evaluation and Research
The Center for Drug Evaluation and Research provides news about human drug research, approved drugs, and drug recalls for consumers and medical professionals. The CDER web site includes a comprehensive Drug Information Pathfinder page and an Oncology Tools page.

Food and Drug Administration Office of Orphan Products Development
The Office of Orphan Products Development works with the medical, research, pharmaceutical and rare disease support communities to carry out the provisions of the Orphan Drug Act. The OOPD web site provides information about acquiring funding for research into the development of orphan products, submitting applications for the approval of products, as well as legislation that governs the process. General information about orphan products can be found, as well as the opportunity to subscribe to the OOPD Listserv, an e-mail discussion list that disseminates information about legislation, orphan product approvals, and relevant news.

National Center for Biotechnology Information: Introduction to Genes and Disease
Genes and Disease is a collection of articles authored by the National Library of Medicine that discuss genes and the diseases they cause. Disease information is organized by the parts of the body that are affected.

Genetics Home Reference
The Genetics Home Reference is the National Library of Medicine web site for consumer information about genetic conditions and the genes of chromosomes responsible for those conditions. The web site includes summaries about a condition's genetic cause and patterns of inheritance, summaries about specific genes and the disorders they are related to, summaries of the genes that make up specific chromosomes and related disorders, a Help Me Understand Genetics Handbook, and a glossary of genetic and medical terms.

Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a service offered by the National Human Genome Research Institute and the Office of Rare Diseases. The Center provides information professionals who can answer questions from consumers, health care professionals, and biomedical researchers. Questions may be asked by telephone, e-mail or U.S. mail, and may be in English or Spanish. The GARD web site provides information on specific genetic disorders, how to find reliable health information online, and resources for finding financial assistance for medical treatment.

Medline Plus: Rare Diseases Pathfinder
Medline Plus is a consumer health information web site provided by the National Library of Medicine. The page contains links to U.S. Government web sites with information about rare diseases. There is also an option to search for articles in medical journals using the PubMed search interface.

National Institute of Arthritis and Musculoskeletal and Skin Diseases Patient Research Registries
The NIAMS patient registries are databases of clinical information gathered about patients with rare diseases. Patients may enroll in registries to provide information that will be used in research studies.

National Institute of Arthritis and Musculoskeletal and Skin Diseases Coalition Members
The NIAMS Coalition Members page lists professional and voluntary organizations that are related to NIAMS research programs. Many organizations listed are patient support and advocacy associations concerned with rare diseases.

{National Institutes of Health Clinical Center}
The NIH Clinical Center is the facility where biomedical research conducted by the National Institutes of Health takes place. Information is provided for patients participating or interested in participating in research studies, physicians, and researchers.

National Institutes of Health National Cancer Institute
The National Cancer Institute Web site provides information about specific types of cancer, research news, cancer statistics, clinical trials, and topics such as screening and genetics. Cancer information may be browsed according to body location, childhood cancers, women's cancers, and alphabetically.

National Institutes of Health Office of Rare Diseases
The Office of Rare Diseases is an agency of the National Institutes of Health. The web site provides information about research and clinical trials, conferences, individual diseases, patient support groups, international support groups, research resources, genetics information, patient travel and lodging, and reports and publications. Some Spanish language information is available.

Rare Diseases Clinical Research Network
The National Institutes of Health created the Rare Disease Clinical Research Network in 2003. Patients may obtain information about rare diseases, clinical studies that are being conducted and sign up for Contact Registries which provide updates about studies that are beginning and progress that is being made on their disease.

National Institute of Neurological Disorders and Stroke
The National Institute of Neurological Disorders and Stroke is an agency of the National Institutes of Health. The NINDS Disorders page provides a list of links to neurological disorders fact sheets that may be browsed. The fact sheets include information about the disorder, treatments, prognosis, and current research.

North American Organizations & Web Sites

Canadian Directory of Genetic Support Groups
The directory is maintained by the Canadian Association of Genetic Counsellors. The directory may be browsed by support group name or by disease name. Support groups in the U.S. and Canada are listed.

Canadian Organization for Rare Disorders
The Canadian Organization for Rare Disorders Web site provides information on over 6000 rare disorders. Information is available about disorders, Canadian support organizations, news articles about rare disorders, and the organization's advocacy efforts toward the creation of a Canadian orphan drug policy. CORD also provides a networking program to link families and individuals with the same disorder.

CenterWatch Clinical Trials Listing Service
CenterWatch provides information for patients and research professionals. The Web site includes clinical trial listings, drug directories, information about how clinical research is conducted, health associations, and an e-mail notification service regarding new content that has been added to CenterWatch.

National Organization for Rare Disorders
The National Organization for Rare Disorders is a nonprofit patient support and advocacy organization. Membership is available to individuals and healthcare professionals. Benefits include access to a rare diseases database, a patient support organizations database, e-mail newsletters, NORD publications, and a networking program. Some resources are available free of charge at the NORD web site.

University of Kansas Medical Center: Genetic and Rare Conditions Site
The Genetic and Rare Conditions Site is a comprehensive web page with information for individuals and health care professionals. Information provided includes finding genetic counseling, children and teen sites, advocacy, cross cultural health care, immigrant health care, Spanish language web sites, international organizations, individual disorders, and patient travel.
University of Kansas Medical Center: Genetics Education Center
The Genetics Education Center is a comprehensive Web site for educators. The Web site provides links to information about the Human Genome Project, school and curriculum resources, careers, museum exhibits, and genetics in the media.

International Organizations

{British Paediatric Surveillance Unit}
The British Paediatric Surveillance Unit is a joint project of the Royal College of Paediatrics and Child Health, the Health Protection Agency, the Institute of Child Health, Health Protection Scotland and the Faculty of Paediatrics of the Royal College of Physicians of Ireland. The BPSU provides information to doctors and researchers about how many children in the UK and Ireland are affected by specific rare disorders and information collected about the disorders to aid in their ability to treat patients.

Contact a Family
Contact A Family is a UK based charity that specializes in providing information about rare disorders and children's disability. A comprehensive list of diseases linked to detailed fact sheets may be browsed. Information is provided about the genetics of childhood disorders, screening, treatment, support groups, and web site links. Contact a Family welcomes inquiries about disorders that are not listed on their web site.

European Organisation for Rare Diseases
The European Organisation for Rare Diseases is an association of rare disease organizations from 24 countries. Ten National Alliance of Rare Disease Organizations are also members. It is the European Union counterpart to the National Organization for Rare Disorders in the United States. EURODIS makes available patient discussion forums, rare disease Web site links, and provides information on how to network when a support group for a particular disorder does not yet exist. Information is available in English, Spanish, French, German, Italian and Portuguese.

Genetic Alliance
The Genetic Alliance is an international coalition of over 600 advocacy, research, and health care organizations. The coalition offers individual and organizational memberships. The Web site provides disease information, guidance on creating family health histories, opportunities to become an advocate for genetic health and research, and an international events calendar.

{Instituto de Investigatión de Enfermedades Raras}
The Spanish Institute for Research on Rare Disorders Web site provides access to a database that contains information on rare diseases, diagnostic centers, services, publications, medications and support organizations.

International Alliance of Patients' Organizations
The International Alliance of Patients' Organizations Web site provides access to a global database of patient support organizations that may be searched by group name, subject keyword, geographic location, or type of disease. The IAPO also offers administrative assistance to member support organizations.

ORPHANET is a freely available database that provides information about rare diseases and orphan drugs in English, French, German, Italian, Spanish, and Portuguese. The database may be searched by disease name to find information about the disease, specialized outpatient clinics, clinical laboratories, research projects, patient support groups, and other related Web sites.

The Knowledge Database of the Swedish National Board of Health and Welfare on rare diseases contains information in Swedish on over 200 rare diseases. Selected information is available in English.

Recommended Reading

The European Rare Diseases Therapeutic Initiative
Public Library of Science. September 2005.
NIH Launches Clinical Studies Nationwide to Investigate Rare Diseases
National Institutes of Health. May 5, 2006.
{Orphan Products: Hope for People With Rare Diseases}
FDA Consumer Magazine. November-December 2003.
{President Bush Signs Rare Diseases Legislation}
National Organization for Rare Disorders. November 7, 2002.
{Prevalence of rare diseases: A bibliographic survey}
A systematic review of the medical literature is being performed by ORPHANET to estimate the prevalence of rare diseases in Europe. ORPHANET issues a new report every 3 months.

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