Rare Diseases Initiative #1
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Shall we start from the beginning?
The human being categorizes and classify objects and ideas to simplify and structure them. Rare diseases’ definition is not different. If you search for "what is a rare disease? ", over 1 million results appear on your screen.
There is something common between all the definitions: rare diseases are a group of disorders that affect a small percentage of a population. Most of them have no cure, are rare genetic diseases, and are often chronic. This is a qualitative definition, i.e., defining the disease without numbers but medical characteristics.
However, what defines a rare disease as rare is also its number, i.e., the quantitative definition, which is determined by drug regulation agencies and the government of each country. For example, in the US, rare diseases affect no more than 200 000 individuals nationwide, while in Europe, a disease is rare when it affects fewer than 1 in 2,000 people. So, a disease can be rare in some regions but not in others. In some countries, there is not even a clear definition of a rare disease.
See some distribution of definitions below according to each continent:
Why a standard definition is necessary for rare diseases?
The development of a clear quantitative definition of rare diseases can help recognize people affected in these countries, share knowledge and expertise, and facilitate clinical trials (we explain this better in some other post).
International strategies to improve health outcomes for vulnerable patients cannot be developed without an international and neutral definition. A geopolitically neutral manner to define rare diseases can influence disease diagnosis, treatment approaches, and therapy development.
Always remember that patients with rare diseases face a long journey for diagnosis, and most diseases are misdiagnosed or undiagnosed.
Life is all about sharing
Here is our space reserved for sharing good initiatives and sources of information.
Today, our recommendation is to learn more about the platform "Rare diseases international". It’s a global alliance of people living with a rare disease and their families across all countries and across all rare diseases.
More than just clear and objective content about rare diseases, you can also find amazing illustrations and infographics that make a difference in understanding the topic.
Click on this link and check out the video explaining the operational description of rare diseases.
Do you want to collaborate with us? Fill out the form here, and we will contact you soon.
This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No101030965. RADI was developed with the support of eLife Community Ambassadors programme.