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Rare Diseases

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.

The SJD Barcelona Children's Hospital is one of the three member centers of the first network of specialist clinical units (XUEC in Catalan) for the care of minority diseases created by the Catalan Health Service.

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.

Our services

Face-to-face consultations

We offer integrated care provided by a multidisciplinary team of professionals from the Hospital departments and units involved in each specific pathology.

It is not covered by public health

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.

It is not covered by public health

Personalised care

Every patient has a case manager who coordinates their care, organising their schedule and making families' lives as easy as possible.

It is not covered by public health

Genomic studies

In the Genome Diagnostics Platform, we have the tools to diagnose and investigate. We are part of national and international networks, such as CIBERER or Orphanet.

It is not covered by public health

Genetic counselling

The genetic study for each case is complemented by genetic counselling for the family, which assesses the type of inheritance and the risk of recurrence.

It is not covered by public health

Patient-related research

We are currently researching numerous rare diseases. Patients can therefore contribute to and benefit from the advances we are making.

It is not covered by public health


Closer to families

Rare commons

Research project focussing on the biomedical study of rare diseases affecting children through an online platform that enables collaboration between users.

Metabolism guide

Online medical advice and practical information to meet the needs of patients living with congenital metabolic diseases and their families.

In the IPER we can make the assessment of a patient. To start the process send us your request through the following form.

SJD Barcelona Children's Hospital Pediatric Institut for Rare Diseases

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