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Locations and phones

Call center 93 253 21 00

Monday to Sunday, from 8 am to 8:30 pm

Scheduling or change of appointment +34 93 253 21 00

Monday to Friday, from 8 am to 7 pm

Private Care - International Patients +34 93 600 97 83

Monday to Friday, from 8 am to 7 pm

SJD Barcelona Children's Hospital

Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat

How to arrive

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Paciente jugando en el hall del Hospital Sant Joan de Déu Barcelona

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.


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 wide-ranging experience

Our Department has treated more than 12,000 patients with rare diseases in recent years.

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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.

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Research and dissemination

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

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Specialties and services

Tests we perform

Genomic studies
Genetic counselling

Our professionals

We are shedding greater light on rare diseases to better treat and cure affected children

Dídac Casas Alba, pediatre i genetista clínic - Hospital Sant Joan de Déu Barcelona
Dídac Casas Alba
Paediatrician and clinical geneticist
Adrián Alcalá San Martin
Genetics biologist
SJD Logo
Mar Borregan Prats
Genetic counselor
Diana Salinas Chaparro, asesora genética, Hospital Sant Joan de Déu Barcelona
Diana Salinas Chaparro
Genetic counselor
Leticia Pías Peleteiro, neuropediatra del Hospital Sant Joan de Déu Barcelona
Leticia Pías Peleteiro
Avatar SJD male
Guerau Fernández Isern
Clinical Bioinformatician
Avatar SJD male
Joan Maynou Fernández
Clinical Bioinformatician

Patient stories

"We would have been grateful if there had been a network to share all the information available on rare diseases"
"Thanks to this research, my daughter has been able to walk again"


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.


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

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.