Rare diseases generally involve various organs and can affect both the physical and mental capacities of patients. The condition may be visible from birth or infancy, but some do not appear until adulthood. They are serious, chronic, usually degenerative illnesses that have great repercussions for both the patient and the whole family.

There are currently more than 7,000 different rare diseases identified, and these have direct impact on the daily lives of more than 30 million people in Europe alone. Living with a rare disease is a daily learning experience for both patients and their families. Although they have different names and different symptoms, rare diseases affect the daily lives of patients and families in similar ways.

Since these diseases are so uncommon, knowledge about them is more limited compared to other more prevalent diseases. As a result, both diagnostic processes and treatments are often complex. That is why these diseases require a high degree of expertise and a multidisciplinary approach. In view of this, and with the goal of improving care for patients with rare diseases, health systems have developed a number of initiatives. These include the Catalan Health System’s Network of Clinical Expertise Units (XUEC); the Spanish Health System’s Reference Centres, Departments and Units (CSUR) and European Reference Networks (ERNs), aimed at improving patient care and knowledge about these diseases within the European Union. Committed to improving the multidisciplinary treatment that these diseases require, Hospital de Sant Pau is an active partner in all three initiatives.

Sant Pau és centre de referència en les següents malalties minoritàries:

• Blood diseases - Hematopoietic stem cell transplantation in children. CSUR
• Rare neuromuscular diseases, in adults. CSUR, XUEC, ERN.
• Sarcomas and other musculoskeletal tumours, in adults. CSUR, ERN.
• Bladder exstrophy, epispadias and cloacal exstrophy, in children and adults. CSUR, XUEC, ERN.
• Complex glomerular diseases, in children and adults. CSUR, XUEC, ERN.
• Hereditary erythropathology, in children and adults. CSUR, ERN.
• Complex hypothalamic pituitary pathology, in adults. CSUR, XUEC, ERN.
• Rare diseases that occur with movement disorders (adults). CSUR
• Congenital coagulopathies (children and adults). CSUR.
• Congenital bone marrow failure syndromes (children and adults). CSUR.
• Systemic autoimmune diseases (adults). CSUR i XUEC         
• Complex urethral reconstructive surgery in adults.  CSUR
• Congenital spinal cord failure syndrome. CSUR.
• Respiratory rare diseases. XUEC
• Genetic-based cognitive-behavioural rare disorders in adulthood. XUEC
• Non-endocrine hematological minority diseases (children and adults). XUEC
• Endocrine minority diseases in adults. XUEC