Today, February 29, is celebrated World Rare Disease Day. A rare disease is one that has a very low prevalence, less than 5 cases per ten thousand people. More than 7,000 diseases of this type have been categorized and some data indicate that 5% of the population may suffer from a rare disease. Also the time of diagnosis (one of the main problems) sometimes exceeds ten years (since it is not always It is easy to know what specific pathology a person has).
Fortunately, science is making progress in many of these diseases and tools such as CRISPR or artificial intelligence can represent a revolution in treatment and cure. Likewise, the technological possibilities to accelerate diagnosis have also increased thanks to technologies such as liquid biopsy (thanks to omics technologies).
At IDiBE we believe that this day must be vindicated so that it remains on the political agenda and so that research is promoted to improve diagnosis and access to treatments for people suffering from any of these pathologies.
We leave you a message from the singer Fito Cabrales: “Rare, I don’t say different, I say rare.“
Do you want to know more about rare diseases? Click on the link to the website of the European Organization for Rare Diseases.