Orphanet

Key takeaways

Orphanet belongs to biology; place it in that map before memorising details.
Learn the definition first, then one example that makes the definition concrete.
Connect Orphanet to a quantity you can measure, compute or draw — that is where exam questions come from.
Reproduce the core statement of Orphanet from memory before moving on to harder problems.

Reference excerpt

Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks. Orphanet was founded in France in 1997 by Inserm, the French National Institute of Health and Medical Research. The website is managed by a network of academic establishments from 40 countries, led by Inserm, and is a European Union Health Programme Joint Action. It contains content for both physicians and patients. Its administrative office is in Paris and its official medical journal is the Orphanet Journal of Rare Diseases published on its behalf by BioMed Central. As of October 2020, the site provides information on over 6,100 rare diseases and 5,400 genes.

Available information Orphanet is an online database with the goal of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes), Orphanet contributes to making them more visible in health and research information systems. The information is available in the following languages: English, French, German, Dutch, Spanish, Italian, Portuguese, Polish and Czech. The website does not feature any advertising.

Rare disease directory There are various possibilities to search for diseases affecting less than 1 person per 2000 (based on data from Europe). The search is either possible by entering the name of the disease, such as progeria for instance, to receive information about the prevalence and a definition. A specific disease can also be searched for by entering the ICD code, the OMIM code or the name of the gene associated with the disease.

Diagnostic tests and testing facility directory Information on diagnostic tests conducted in order to establish a diagnosis of a rare disease and laboratories with the technical competence to carry them out can be found in the section diagnostic tests. Constitutional genetic tests are also registered for non-rare diseases, for diseases with a genetic susceptibility and for pharmacogenetics. Searches can be conducted either by country, speciality, objective, technique or purpose.

Professional and institution directory

Professionals Professionals working in the field of rare diseases can be found in this section, if they have agreed to be listed. It is possible to find consultants and physicians in charge of an expert centre, biologists in laboratories, researchers, patient organisation representatives, coordinators of networks, principal investigators of clinical trials, managers or contact persons of registries and biobanks.

Institutions The list of institutions includes for example, institutions hosting expert centres, research or clinical laboratories, patient organisations, institutions hosting registries or biobanks. The information displayed is provided by the professionals working in the institution who have agreed to be listed.

Expert centre directory By entering the respective rare disease one can find information on corresponding centres of expertise or networks of centres of expertise dedicated to the medical management and/or genetic counselling. The list comprises medical management centres officially designated by the health authorities in the country and centres offering genetic counselling and genetic consultations for any genetic disease or for a particular genetic disease or group of diseases. The results can be sorted either geographically or by specificity; it is also possible to specify medical management, genetic counselling or both, and to search for adult or pediatric clinics.

Orphan drug directory The directory includes drugs (and substances) for the treatment of rare diseases at all stages of development. This includes all substances which have been granted an orphan designation for disease(s) considered rare in Europe or the USA. Drugs without the designation are also included, as long as they have been granted a marketing authorisation with a specific indication for a rare disease.

Research and clinical trial directory

Research projects Information is available on ongoing and unpublished research projects explicitly focused on a rare disease – either funded by regular national research funding or by a funding body with a scientific committee performing a competitive selection of research projects. Single-centre and national or international multicentric research projects are registered.

Clinical trials The clinical trials listed on Orphanet comprise interventional studies aiming to evaluate a drug (substance, or combination) to treat (or prevent) a specific rare disease. The trials can be national or international and, regarding the phase they are in, either recruiting, ongoing or finished. Since beginning collaboration in 2018, the World Health Organization's International Clinical Trials Registry Platform (ICTRP) and Orphanet intend to make clinical trials on rare diseases easily identifiable and findable, thus improving knowledge on rare diseases.

Patient organisations Information on patient organisations, umbrella organisations and alliances dedicated to one particular rare disease or to a group of rare diseases are provided in this section. They can either be sorted geographically, or by specificity. Patient organisations should be active, responsive, provide support and information to patients, hold legal status according to the country's laws and have a designated head and/or contact person; however, Orphanet does not assume any responsibility if these requirements are not fulfilled.

Activity Report and other publications

On the Orphanet website Orphanet reports comprise a series of texts covering topics relevant to all rare diseases. New reports are regularly put online and some of these texts are periodically updated. The annual Activity Report is available as a PDF file of roughly 80 pages.

Orphanet Journal of Rare Diseases The Orphanet Journal of Rare Diseases is published in cooperation with Springer Nature. Numerous reports and features are available online. The offer is free of charge.

See also European Organisation for Rare Diseases

References

External links Official website Orphanet Journal of Rare Diseases International Clinical Trials Registry Platform

Worked examples

Example 1 — a first encounter with Orphanet

Start with the simplest possible case. Write down what Orphanet claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In biology, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to Orphanet before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about Orphanet ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of Orphanet

In research: Orphanet appears in biology research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses Orphanet in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: Orphanet is common in secondary-school and first-year university syllabi. It links to neighbouring topics Inserm, Medical databases, Medical websites, so understanding it makes those chapters shorter.
In everyday life: Look for Orphanet outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

How to study Orphanet in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what Orphanet means in your own words.
Compare your version with the excerpt and mark what you missed.
Work through the three examples above with pen and paper.
Explain Orphanet out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is Orphanet in simple terms?

Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks. Orphanet was founded in France in 1997 by Inserm, the French National Institute of Health and Medical Research.

Why does Orphanet matter?

Because it connects several biology ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study Orphanet?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on Orphanet.