The CIB commemorates World Rare Disease Day and contributes to its visibility

On February 28 this year, World Rare Disease Day is celebrated. At the Centro de Investigaciones Biológicas Margarita Salas (CSIC), several groups are working to investigate some of these diseases, putting all their efforts into achieving treatments to improve the lives of these patients and transfer their research results to society.

Rare diseases are those characterized by their low prevalence: in the European Union, they affect less than 5 out of every 10,000 inhabitants, which means that, in principle, each affects only a few people. However, if we take this figure as a whole and consider that, according to the latest Orphanet update, we currently have identified 6,417 rare diseases, we realize that many people are living with a rare disease - with or without a diagnosis: we are talking about more than 3 million people in Spain.

Most of these are genetic diseases, and many are congenital, which means that they are present from birth: in two out of three cases, they occur before the age of two. In addition, they are often accompanied by severe disability involving a significant loss of autonomy and the need for ongoing support. There is also a high probability that they are life-threatening.

At the CIB Margarita Salas, we are working on several projects aimed at understanding these processes and contributing to the cure of these diseases. This year we want to commemorate and make this anniversary visible in the form of an alphabet of rare diseases studied at the center: From A to Z we will know better what is their prevalence, and symptomatology, as well as the approach of our researchers to better understand them, provide tools for diagnosis and treatment to alleviate them, as well as the relationship we maintain with patient associations, following the slogan proposed by FEDER for 2025: 'pERsonas', to remember that behind every campaign, every need, every disease, every symptom, there are people and families.

You can learn more about our work on rare diseases in the report “Abecedario de las enfermedades raras en el CIB Margarita Salas”, which we link here.

In addition, we share the report “Rare diseases: a challenge for families, for hospitals and for society” published by the Fundación la Caixa in its MediaHub on the occasion of this commemoration, with the participation of our researcher Dolores Pérez Sala, the beneficiary of one of the CaixaResearch projects that studies a rare disease, in this case, Alexander's disease.

Interesting links:

Report “The CIB Margarita Salas and rare diseases: from the laboratory to the patients”: link.

Video “International Day for Rare Diseases 2024”: link.

Video “World Rare Disease Day 2023 - Know them to cure them”: link.

Video “World Rare Disease Day 2022 - Why do we research rare disease?”: link.

Video 2021 “CIB Margarita Salas researchers tell their work on Rare Diseases”: link.