Rare diseases: the challenge of diagnosing 3 million people in Spain

Rare diseases, defined by the European Commission as those with a prevalence of less than 5 cases per 10,000 inhabitants, pose challenges that go far beyond the low frequency of each individual pathology.

According to the World Health Organization (WHO), more than 300 million people worldwide currently live with one of the more than 7,000 rare diseases identified. In Spain, the figure rises to 3 million people, according to estimates by leading national organizations.

The impact, however, is not measured solely in numbers. The vulnerability of those suffering from a rare disease is evident in the time it takes to diagnose them: the process takes an average of 6 years, and in 20% of cases it can take more than a decade, according to studies carried out by the Carlos III Health Institute (ISCIII). Despite this, only 5% of these pathologies currently have a specific treatment, making research and data management essential pillars for advancing care, knowledge, and equity.

At IDOM, we understand that addressing this reality requires a systemic, collaborative, and technologically advanced approach. That is why we are actively working on two strategic pillars for the future of health in Europe:

Excellence in European Reference Networks (ERNs)

Specialized clinical knowledge is limited and often scattered across different countries. ERNs connect European experts to ensure high-quality care regardless of where patients live.

At IDOM, in collaboration with the Andalusian Agency for Healthcare Quality, we coordinate the evaluation processes for these networks and their member centers, ensuring that they operate to the highest clinical and organizational standards. This translates into a more effective response to highly complex cases.

Health Data Transformation and European Health Data Space (EHDS)

The future of the diagnosis and treatment of rare diseases depends on the ability to securely share, analyze, and reuse health data.

At IDOM, together with the Aragon Health Sciences Institute, we promote the technical and operational knowledge necessary for the implementation of the European Health Data Space (EHDS). This framework facilitates the secondary use of data, allowing the information generated during clinical care to be converted into scientific evidence that accelerates research, public policy evaluation, and decision-making based on real needs.