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Rare diseases: what makes us different?

Our wide-ranging experience

  • Our department has treated more than 12,000 patients with rare diseases in recent years. More than 20% of children who have this type of disease and their families undergo between one and three years of symptoms until they are diagnosed. Our vast experience allows us to make accurate diagnoses for these patients.
  • We have some advanced diagnostic tools, such as a genome-based diagnostic platform, which is essential given that 80% of these conditions have a genetic basis.

Comprehensive care for patients and their families

  • We provide comprehensive care, which involves a multidisciplinary team of professionals. We rely on case managers, who coordinate care for each one of our patients. In addition to providing comprehensive treatment for children, we plan their visits, tests and check-ups to fit in with the daily lives of patients and their families.

Research and dissemination

  • We are a leading national centre for research into rare diseases. Through the Paediatric Research Institute which the University of Barcelona (UB) and the Polytechnic University of Catalonia (UPC) work with, and through our participation in CIBER on Rare Diseases (CIBERER), we conduct different lines of research in the field of rare conditions.
  • The Clinical Research Unit at SJD Barcelona Children's Hospital provides paediatricians the chance to develop and take part in clinical trials.
  • We are connected across the world. One of the main difficulties investigators face when starting clinical research on a rare condition is getting a significant sample of patients, as that number will be small in a single country. Therefore, one of the tools of the Institute for Rare Childhood Disorders is platform 2.0, Rare Commons, which connects investigators and patients with uncommon diseases across the world, so that they can work together to understand and research these conditions.
  • We do significant outreach and contact patients and families electronically through the Rare Commons and Metabolic Guide portals
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