
The Pediatric Institut for Rare Diseases (IPER) makes progress in the treatment of and research into rare diseases.
Being a third level benchmark University Centre, here at the SJD Barcelona Children's Hospital we treat complex patients referred from all over Catalonia, Spain and other parts of the world. Among these, for many years we have traditionally treated a considerable number of children suffering from rare diseases, which affect fewer than 5 people per 10,000 inhabitants.
We have experience in more than 1, 200 types of rare diseases, three quarters of which affect fewer than 4 children, and are recognised as ultra-rare. Thus, we are one of the most experienced centres in Spain in dealing clinically with these pathologies.
This extensive experience makes us unique, and accordingly, in 2015, the Hospital established a specific transversal Department, the Pediatric Institut for Rare Diseases (IPER), with the objective of making progress in the treatment of and research into rare diseases.
If you would like to contact the IPER for an assessment of a patient in the Hospital Sant Joan de Déu Barcelona send us your request.
Accreditations
We are part of the ERN Ithaca, the european reference network for rare malformation syndromes, intellectual and other neurodevelopmental disorders.
We are also one of the three members of the first network of specialist clinical units (XUEC in Catalan) for the care of minority diseases created by the Catalan Health Service.
Why SJD Barcelona Children's Hospital?
Our Department has treated more than 12,000 patients with rare diseases in recent years.
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.
Every patient has a case manager who coordinates their care, organising their schedule and making families' lives as easy as possible.
Comprehensive care for patients and their families
Every patient has a case manager who coordinates their care, organising their schedule and making families' lives as easy as possible.
- 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.
- We offer face-to-face and virtual consultations. We keep in touch with patients and families through our Patient Portal. We provide care-related and psychosocial support and guidance on diagnoses and treatments.
We are currently researching numerous rare diseases. Patients can therefore contribute to and benefit from the advances we are making.
Research and dissemination
We are currently researching numerous rare diseases. Patients can therefore contribute to and benefit from the advances we are making.
- 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.
Specialties and services
Our professionals
We are shedding greater light on rare diseases to better treat and cure affected children






Patient stories
Research
Clinical research
The Pediatric Institut for Rare Diseases (IPER) conducts different clinical studies. We research Lowe Syndrome, congenital defects related to glycosylation, neurodegeneration with brain iron accumulation (NBIA), in cooperation with Neurology, and hereditary retinal dystrophies (Stargardt disease, Leber congenital amaurosis, achromatopsia, X-linked retinoschisis and cone dystrophy), in cooperation with Ophthalmology.
The scientific activities of the IPER also include research carried out in the Genetic and Molecular Medicine Department and the Paediatric Research Institute of SJD Barcelona Children's Hospital (IRSJD).
Basic and translational research
The Neurogenetics and Molecular Medicine Group of IRSJD, which aims at understanding cellular, molecular, pathophysiological and therapeutic bases of neurogenetic disorders, uses genomic approaches, cell models and animal models in transgenic and knockout mice, and preclinical trials.
We research neuromuscular diseases (Charcot-Marie-Tooth disease, Friedreich's ataxia), central nervous system disorders such as Parkinson's disease and other movement disorders, Menkes Syndrome and neurodevelopmental disorders, such as Coffin-Siris syndrome.
Teaching
SJD Barcelona Children's Hospital is a university hospital affiliated with the University of Barcelona, and so we share our knowledge and train professionals to specialise in high-complexity medicine.
Specialist training for resident professionals and medical interns
Members of the department actively take part in undergraduate and postgraduate teaching at the University of Barcelona. Notable amongst these activities is Paediatric teaching at degree level, and training in-house and resident physicians in Paediatrics and Clinical Biochemistry.
Master in Clinical Genetics and Rare Diseases
Theoretical and practical training in Clinical and Minority Deseases, aimed at graduates in Medicine and Surgery, specialists in Pediatrics, Internal Medicine, Obstetrics and Gynecology and other medical specialists, and graduates in disciplines in the field of Biomedicine with a master’s degree.
- Direction: Dr. Francesc Palau Martínez
- Number of credits: 120 ECTS
- Duration: 2 years
Master's in Neuropaediatrics
We take part in the training in theory and practice in Neuropaediatrics, aimed at graduates in Medicine and Surgery. Specialists in Paediatrics and Neurology.
- Management: Dr. Carme Fons Estupiña
- Number of credits: 120 ECTS
- Duration: 2 years
Resources for families
We are building a community to bring together patients, caregivers, clinicians and researchers to join forces and make an impact in rare diseases.
Online medical advice and practical information to meet the needs of patients living with congenital metabolic diseases and their families.
News
Contact us
In the IPER we can make the assessment of a patient. To start the process send us your request through the following form.