AIHA Internet Resources Digest
Spotlight on: Rare Diseases
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear... No single cutoff number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular group of people, but still be common in another.
Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.
Orphanet offers a range of freely accessible services:
- An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
- An encyclopaedia of rare diseases in English and French, progressively translated into the other languages of the website.
- An inventory of orphan drugs at all stages of development.
- A directory of expert resources, providing information on expert clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organisations, in the field of rare diseases, in each of the countries in Orphanet’s consortium.
- An assistance-to-diagnosis tool allowing users to search by signs and symptoms.
- An encyclopaedia of recommendations and guidelines for emergency medical care and anaesthesia.
- A fortnightly newsletter, OrphaNews, which gives an overview of scientific and po-litical current affairs in the field of rare dis-eases and orphan drugs, in English and French.
- A collection of thematic reports, the Orphanet Reports Series, focusing on over-arching themes, directly downloadable from the website.
Orphanet is led by a consortium of around 40 countries, coordinated by the French IN-SERM team. National teams are responsible for the collection of information on expert centres, medical laboratories, ongoing re-search and patient organisations in their country. All Orphanet teams work according to the Orphanet Standard Operating Proce-dures. The French coordinating team is re-sponsible for the infrastructure of Orphanet, management tools, quality control, rare disease inventory, classifications and production of the encyclopaedia.
EURORDIS is a non-governmental patient-driven alliance of patient organizations and individuals active in the field of rare dis-eases, that promotes research on rare dis-eases and commercial development of or-phan drugs.
EURORDIS is dedicated to improving the quality of life of all people living with rare diseases in Europe. It was founded in 1997; it is supported by its members and by the French Muscular Dystrophy Association (AFM), the European Commission, corporate foundations and the health industry.
There are an estimated 20–30 million people living with rare diseases in Europe alone, and an estimated 6,000 rare diseases. EU-RORDIS represents more than 571 rare disease organizations in 52 different countries, covering more than 4,000 rare diseases.
On the web-site you can find information about rare disease polocies, orphan drugs, treatments and services to patients, and training materials in 7 European languages.
Collection of links to internet resources on rare diseases from Health on the Net Foun-dation (includes list of diseases names in five languages).
Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and National Alliances of Rare Disease Patient Organisations at the national level.
The South African Foundation for Rare Dis-orders (SAFRD) was established to help support those affected by rare disorders. The Foundation is creating a network of peo-ple who truly understand and can provide real assistance to patients, their families and friends.
Patients diagnosed with a rare disorder and their loved ones can have access to the emotional support of fellow patients, with whom they can share their experiences of living with such a disorder, thereby helping them to expand their knowledge and under-standing of their disease.
The main goal of the SAFRD is to create a more positive life for those living with a rare disorder by giving the necessary support in as many aspects of living with their disorder as possible.
The National Organization for Rare Disorders (NORD)
NORD is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and as-sisting the organizations that serve them. NORD is committed to the identification,
treatment, and cure of rare disorders through programs of education, advocacy, research, and service in the USA.
NORD serves all stakeholders in the rare disease community, including patients and their families, patient organizations, researchers, medical professionals, and com-panies developing orphan products.
NORD provides information about rare dis-eases through its publications, website, and other educational offerings. One of its most important resources is the Rare Disease Da-tabase, a compendium of 1,200 rare disease reports developed for patients and their fami-lies that includes information on symptoms, causes, treatments, clinical trials, and links to other sources of help. NORD also publishes a small collection of physician’s booklets on se-lected rare diseases. .
The ORDR web site aims to answer ques-tions about rare diseases and the activities of the ORDR for patients, their families, healthcare providers, researchers, educators, students, and anyone with concern for and interest in rare diseases.
The site provides information about ORDR-sponsored biomedical research, scientific conferences, and rare and genetic diseases. It also serves as a portal to information on major topics of interest to the rare diseases community.
Orphanet Journal of Rare Diseases is an open access, online journal that encom-passes all aspects of rare diseases and orphan drugs. The journal publishes high quality reviews on specific rare diseases. In addition, the journal may consider arti-cles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs.
Rare Diseases is a new Online, open ac-cess publication, started in 2013. Rare Dis-eases is a peer-reviewed journal that publishes high-quality research addressing the underlying mechanisms of rare diseases.
Rare Diseases covers a range of topics including studies of disease-related proteins, analyses of rare disease mutations, gene expression analyses of rare disease genes, genotype-phenotype correlations, studies of animal models, and novel clinical findings.
Rare Diseases publishes several types of articles including original research manu-scripts, reviews, addenda, highlights from foundations devoted to rare diseases, and discussions about rare disease diagnoses.
Reviews and addenda will typically be invited, although foundations may submit highlight articles at any time.
Orphan Drugs: Research and Reviews
An international, peer-reviewed, open ac-cess journal publishing original research, reports, reviews and commentaries on all areas of the design and development of orphan drugs for the treatment of rare dis-eases through to clinical applications.
An international, peer-reviewed journal that covers all aspects of R&D on rare diseases and orphan drugs.
AIHA Internet Resources Digest Forthcoming Topics [Provisional]
- Open Access Initiatives
- Resources on Pediatrics
- Patient Information Services
About the AIHA Internet Resources Digest
The Internet Resources Digest — previously called the Health Resources Digest — is distributed free of charge as a service of the American International Health Alliance’s Learning Resources Project thanks to the generous support of the American people through the US President’s Emergency Plan for AIDS Relief (PEPFAR). The Learning Resources Project is implemented through AIHA’s HIV/AIDS Twinning Center Program, which is funded through a cooperative agreement with the US Department of Health and Human Services, Health Resources and Services Administration (HRSA).
The Internet Resources Digest is compiled by Irina Ibraghimova, PhD, Library and Information Management Specialist, HealthConnect International (healthconnect-intl.org). The contents are the responsibility of AIHA and do not necessarily reflect the views of PEPFAR, HRSA, or the United States Government. If you have a suggestion for a Digest topic, or would like to contribute information about Internet resources, please contact ibra[at]zadar.net.
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