Instituto de Salud Carlos III

Presentation

The Rare Disease Research Institute was created to promote and execute clinical and basic research, provide training and provide support to the health reference and innovation in the treatment of rare diseases. 

Functions

The functions of the Rare Disease Research Institute are broken down into the following action plans:

1. Research Action Plan: Identify the magnitude of rare diseases, setting up an epidemiological-based information system.

Promote clinical, basic, socio-sanitary-and socio-economic research of rare diseases as part of the National Scientific Research, Development, and Technological Innovation Plan (R+D+I).

Prepare and periodically update a census of activity resources relating to rare diseases.

Promote and coordinate a bank of biological material related to rare diseases.

Promote rare disease research in collaboration with the National Healthcare System health services.

Conduct research on the last causes and pathogens of the Toxic Oil Syndrome.

2. Action Plan within the technical-assistance framework: identify reference clinical units in the rare disease area in collaboration with the health services of the Autonomous Regions.

Try to ensure proper healthcare to patients suffering from rare diseases in collaboration with the health services of the Autonomous Regions and the coordinators of the Research Networks supporting the Rare Disease Research Institute.

Provide information on scientific, technical, and ethical aspects of clinical tests with orphan medicines or other medicines or devises when trying to increase the scope of their application for rare diseases, notwithstanding the competencies of other health administration organizations.

Promote pilot innovation projects for clinical and social-health care in rare diseases, creating expert groups to define action criteria, contributing to preparing clinical-therapeutic protocols in consensus.

Promote quality and specialised healthcare for Toxic Oil Syndrome patients.

3. Educational Action Plan: As part of the education department for Non-prevalent Human Pathologies, organize and develop, through the National Health School and National School of Occupational Medicine, educational activities involving general or specific courses focusing on rare diseases and the toxic oil syndrome with the Autonomous Regions and education, professional, and scientific organizations. 

4. Information Action Plan: develop an information system on rare diseases, resources and activities reaching out to all healthcare professionals.

5. Notwithstanding the above, the Rare Disease Research Institute will undertake the necessary technical coordination with the Research Unit for the Study of Congenital Diseases, a centre associated with the Carlos III Health Institute, pursuant to Section 4.1.a) of this Organization’s Bylaws, approved by Royal Decree 375/2001, enacted on 6 April.