SJD Barcelona Children’s Hospital, a benchmark in the treatment of rare diseases


SJD was the first children’s hospital in Spain, more than 150 years ago.


Since our beginnings, each and every one of the professionals at the Hospital Sant Joan de Déu Barcelona (SJD) has had only two actions in mind. Healing and caring. Two verbs so powerful and meaningful that they have made us one of the most important hospitals in Europe in the specialities of paediatric, maternal-fetal, obstetric and gynaecological medicine.

We are also the hospital in Spain where most children and young people are treated and the hospital of reference in our immediate geographical area. As a result, our hospital is visited by women, infants and adolescents with complex ailments from Catalonia, the rest of the country and other parts of the world. Complex ailments such as rare diseases.

Hospital Sant Joan de Déu Barcelona is one of the three member centers of the first Network of Clinical Excellence Units (XUEC, in Catalan) for the care of minority diseases created by the Catalan Health Service. Network that includes different hospitals with a high level of diagnostic and therapeutic knowledge in the approach to certain groups of diseases, and that meet the criteria of excellence established by the Servei Català de la Salut.

Also, in 2015, the Hospital created the Pediatric Institute for Rare Diseases (IPER) with the aim of advancing the treatment and research of rare diseases.

In addition, this year 2022, the Hospital Sant Joan de Déu Barcelona has launched La Casa de Sofia, the first care center for minority diseases and complex chronicity for infants.

What are rare diseases?

Rare diseases (RD), also known as minority diseases (MMD), are those diseases with a high mortality rate but low prevalence, i.e., with a small proportion of people suffering from these diseases in relation to the total population under study.

At the end of 1999, the first Community Action Plan on Rare Diseases, including those of genetic origin, was approved in the European Community. This program established that RDs are those that affect less than 5 persons per 10,000 inhabitants.

It is estimated that there are more than 7,000 rare diseases in Europe, affecting 6-8% of the population.

The concept of Rare Diseases was first coined in the mid-1980s in the United States (US).

What makes us different?

What really makes the Hospital Sant Joan de Déu Barcelona special are our professionals. All those men and women who make up the medical and nursing teams who strive every day to carry out and make these two verbs mentioned at the beginning a reality. Healing and caring.

Without them, none of the following could be accomplished:

Extensive experience

We are one of the most experienced centers in Spain in the clinical management of rare diseases. In recent years, we have treated more than 12,000 patients with minority diseases. We have experience in more than 1,200 types of rare diseases. Three quarters of them affect less than 4 children, being recognized as ultra-rare.

Innovation in technology

We have advanced diagnostic tools, including a genomic diagnostic platform, which is essential considering that 80% of these diseases have a genetic basis.


We are a national reference center in rare disease research thanks to our participation in the CIBERER of Rare Diseases (CIBERER) and the Institute for Pediatric Research, together with the University of Barcelona (UB) and the Polytechnic University of Catalonia (UPC).

Through the Pediatric Institute for Rare Diseases (IPER), created in 2015 by our hospital center, we have designed the 2.0 platform, Share4SHare (formerly RareCommons) in order to connect researchers and patients with rare diseases from around the world. And, thus, to work together in the knowledge and research of these pathologies.

Likewise, at IPER we carry out different clinical research projects, focused on very specific and ultra-rare diseases, such as Lowe’s oculocerebro-renal syndrome and hereditary retinal dystrophies. In addition, we are a collaborating center of Orchard Therapeutics, a company dedicated to the research and development of gene therapies for children affected by rare diseases.

On the other hand, in the field of basic and translational research, the Institut de Recerca Sant Joan de Déu (IRSJD) has a Neurogenetics and Molecular Medicine group, aimed at understanding the cellular, molecular, pathophysiological and therapeutic bases of neurogenetic disorders.



Through the Share4Rare and Guía Metabólica portals, we carry out an important task of dissemination, information, training and participation with patients and their families.


Our professionals actively participate in undergraduate and postgraduate teaching at the University of Barcelona. Among these activities it is worth mentioning the teaching of Pediatrics in the Degree of Medicine, in the training of MIR of Pediatrics and FIR of Clinical Biochemistry.

Likewise, in our hospital we offer theoretical and practical training for the Master’s Degree in Clinical Genetics and Minority Diseases of the University of Barcelona.

Our history

The Hospital Sant Joan de Déu was founded on December 14, 1867 in Muntaner Street in Barcelona thanks to the Hospitaller Order San Juan de Dios, being then the first children’s hospital in Spain. He mainly treated children with tuberculosis and other congenital malformations of the locomotor system.

In 1881, the Hospital moved to land located between what is now Diagonal Avenue and Déu i Mata Street. It remained there for almost a century, until the current hospital in Esplugues de Llobregat was inaugurated in 1973.

hospital SJD


If you want to know more about Hospital Sant Joan de Déu Barcelona and our work in the field of rare diseases. Contact us!

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