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Rare diseases

The Institute for Rare Childhood Disorders (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 Institute for Rare Childhood Disorders (IPER), with the objective of making progress in the treatment of and research into rare diseases.

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.

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.

Personalised care

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

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.

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.

Patient-related research

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

Outreach

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.

If you want to contact the IPER for a patient assessment at SJD Barcelona Children's Hospital, please send your application using this form.

SJD Barcelona Children's Hospital Institute for Rare Childhood Disorders

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