Portugal's Rare Disease Program to Become Health Priority in 2027

Portugal's Directorate-General for Health (DGS) will make rare diseases a health priority program starting January 2027. The program aims to implement and monitor 25 priority actions defined in the 2025-2030 strategy. This move addresses the lack of a governance structure to ensure its implementation. The program will be led by Maria do Céu Machado, who coordinated the development of the strategy.

The decision to prioritize rare diseases comes after acknowledging that the strategy presented in February 2025 had not been fully implemented due to the absence of a governance structure. Secretary of State for Health Ana Povo recognized the delay and emphasized the importance of identifying blockages and finding solutions. She acknowledged that associations representing people with rare diseases had publicly highlighted the difficulties.

The new program will have its own leadership and develop a strategic plan based on the 2025-2030 strategy. Maria do Céu Machado's appointment ensures continuity and coherence, as she is familiar with the work already done. The program aims to aggregate knowledge, involve professionals, and maintain a permanent dialogue with associations and people affected by rare diseases.

The program's objectives include improving diagnosis, reducing the time to identify diseases, and enhancing articulation between health services and institutions. Investigation and innovation are also priorities, focusing on valorizing reference centers, participating in European networks, and developing therapeutic opportunities. The program will start in January 2027 with a predicted budget to ensure necessary conditions for implementation.

Ana Povo emphasized that the program's success relies on collaboration with other sectors, including education, employment, and social security. The needs of people with rare diseases extend beyond the health sector. The government aims to move from defining priorities to their concretization, ensuring measures are accompanied and evaluated.

According to the European definition, a rare disease affects fewer than 5 in 10,000 inhabitants. In Portugal, it is estimated that between 600,000 to 800,000 people have a rare disease. The creation of this program demonstrates the government's commitment to addressing the challenges faced by those affected.

The program's implementation will enable the identification of progress and difficulties, allowing for adjustments and improvements. By prioritizing rare diseases, Portugal's health department aims to provide better support and services for those affected, ultimately improving their quality of life.

Key points

• The program will be led by Maria do Céu Machado and start in January 2027 with a predicted budget.
• The strategy for 2025-2030 includes 25 priority actions to improve the lives of people with rare diseases.
• The program aims to aggregate knowledge, involve professionals, and maintain a permanent dialogue with associations and people affected by rare diseases.