Skip to main content
Contacts
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

Language -
A patient playing in the hall at the SJD Barcelona Children's Hospital

The Pediatric Institute of Rare Diseases (IPER) at the SJD Barcelona Children's Hospital makes leaps forward in the treatment and research of rare diseases.

As a reference tertiary-care university hospital, at the SJD Barcelona Children's Hospital, we treat complex patients referred from all over Catalonia, Spain and the rest of the world. Among these patients, over the years we have traditionally handles a considerable number of patients with rare diseases, which affect less than five in 10,000 people.

We have experience with over 1,200 types of rare diseases. Three quarters of these cases involve children under four years old, classing them as ultra-rare diseases. That is why we are one of the most experienced facilities in Spain in the management of rare diseases.

Our broad experience makes us unique, and, consequently, in 2015, the hospital created a targeted transversal facility called the Pediatric Institute of Rare Diseases (IPER), whose main objective is to make progress in the treatment of and research into rare diseases.

If you would like to get in touch with the IPER for a patient assessment at the SJD Barcelona Children's Hospital, send us a request.

Accreditations

We are part of ERN-Ithaca, the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.

Likewise, we are also one of the three members of the first Network of Units of Clinical Expertise (XUEC) in rare diseases, created by the Catalan Health Service.

Why the SJD Barcelona Children's Hospital?

Our broad experience

We have treated more than 12,000 patients with rare diseases in recent years.

More information
Personalised, comprehensive care for patients and families

Each of our patients is assigned a case manager: a staff member whose job it is to coordinate healthcare provision, organise scheduling and make life as easy as possible for families.

More information
Research and teaching

We research a huge number of rare diseases. As such, patients can contribute to and benefit from the progress we make.

More information

Specialisms and services

Testing we conduct

Genomic studies
Genetic counselling

Team

We shine a light on the unknown, to help care for and cure children with rare diseases.

Adrián Alcalá San Martin
Genetics biologist
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
Neuropediatrician
Adrián Moreno Ruiz, asesor genético, Hospital Sant Joan de Déu Barcelona
Adrián Moreno Ruiz
Genetic counselor
Avatar SJD male
Guerau Fernández Isern
Clinical Bioinformatician
SJD Logo
Mar Borregan Prats
Genetic counselor
Avatar SJD male
Joan Maynou Fernández
Clinical Bioinformatician

Family events on World Rare Disease Day

"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"

Patient stories

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.

Research

Clinical research

At the Pediatric Institute for Rare Diseases (IPER), we carry out several kinds of clinical research projects. We research Lowe syndrome, congenital glycosylation defects, neurodegeneration with brain iron accumulation (NBIA) in partnership with the Neurology Department, as well as hereditary retinal dystrophy (Stargardt disease, Leber congenital amaurosis, achromatopsia, X-linked retinoschisis and cone dystrophy) in collaboration with the Ophthalmology Department.

The scientific activity of IPER also involves research projects that are conducted in the Genetic and Molecular Medicine Department and the SJD Research Institute (IRSJD).

Basic and translational research

At the IRSJD, the Neurogenetics and Molecular Medicine work group can be found, aimed at learning about the cellular, molecular, physiopathological and therapeutic foundations of neurogenetic disorders. They use genomic estimation, cellular models and animal models in transgenic and knockout mice, as well as preclinical trials.

We research neuromuscular diseases (Charcot-Marie-Tooth neuropathy, Friedreich ataxia), diseases of the central nervous system, such as Parkinsons and other movement disorders, Menkes disease and neurodevelopment disorders, such as Coffin-Siris syndrome.

Furthermore, the research group into Genomics for diagnosing rare diseases develops genomic analysis tools to diagnose neurological disorders and other rare genetic diseases.

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.