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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

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One of the staff members on the genetics team during a consultation at the SJD Barcelona Children's Hospital

We conduct genetic and genomic testing to provide diagnoses and genetic counselling to our patients.

The Genetics and Molecular Medicine Department at the SJD Barcelona Children's Hospital focuses its activity on genetic diseases of childhood and adolescence.

We receive requests and queries from all other hospital departments. We have a close scientific collaboration agreement with the following departments:Neurology,  Neonatology, and Perinatology and Obstetrics (BCNatal). This is because our department carries out the testing needed during prenatal and reproductive genetic diagnostics.

We work in close collaboration with the Pediatric Institute of Rare Diseases (IPER) and are part of the group of diagnostic labs at the SJD.

We conduct genetic and genomic analysis for both diagnostics and also genetic counselling for our patients, but also for our researchers.

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 goal is to be able to offer all patients, families and staff members access to studies of the genome and their genes, allowing for diagnosis of genetic diseases and also genetic screening and counselling. This allows them to learn their risk of suffering from a monogenic hereditary disease (where only one gene is involved), congenital abnormalities, intellectual disability, metabolic disorders, chromosomal or genomic rearrangement.

Cutting-edge technology

We offer a genetic consultations clinic where we assess children with dysmorphological disorders and issues. 

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We offer genetic counselling

We host a genetic counselling clinic, where we can assess and evaluate the genetic risks of each member of the family, and inform them of the results.

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We research alongside our partners at international facilities

We are in touch with professionals at other facilities both in Spain and abroad, and we are active participants in several research projects.

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Specialties

The Molecular and Genetic Medicine Department offers clinical genetic screenings, in which we assess children with developmental and dysmorphological disorders, as well as a genetic consultation service, in which we inform of, advise on and evaluate family member risk, helping them with whatever they need.

In our labs, we analyse the structure and sequence of the genome, chromosomes and genes to find genetic variants that can cause genetic disorders and rare diseases.

Clinical genetics

  • Clinical genetics and dysmorphology: Providing medical attention to children and adolescents with genetic, congenital or developmental clinical disorders.
  • Developmental neurogenetics: Comprehensive management of disorders and syndromes with neurological involvement affecting patient development.
  • Genetic consulting: Information and support for patients with genetic diseases and disorders and their families, both pre-conception and in pre- and postnatal periods.

Genetics laboratory

  • Clinical and hematological cytogenetics: Studying both chromosomal abnormalities in developmental syndromes and also malignant hemopathies, such as various types of leukemia.
  • Molecular cytogenetics: Studying genome disorders (microdeletions, microduplications).
  • Clinical genomics: Genomic diagnostics platform that uses NGS, allowing for analysis of the human exome and genome.
  • Molecular genetics: Analysis of genes related to specific genetic diseases.
  • Bioinformatics Unit: Analysis of genomic data and design of information management processes for genome sequencing.

Confocal microscopy and cellular imaging platform

This platform offers advanced optical microscopy services for diagnostics, with the aim of exploring innovative ways to use the high-resolution confocal microscope in the field of cellular diagnostics.

Clinical team

Leticia Pías Peleteiro, neuropediatra del Hospital Sant Joan de Déu Barcelona
Leticia Pías Peleteiro
Neuropediatrician
SJD Logo
Mar Borregan Prats
Genetic counselor
Diana Salinas Chaparro, asesora genética, Hospital Sant Joan de Déu Barcelona
Diana Salinas Chaparro
Genetic counselor
Adrián Moreno Ruiz, asesor genético, Hospital Sant Joan de Déu Barcelona
Adrián Moreno Ruiz
Genetic counselor

Confocal microscopy

Research

The Genetics and Molecular Medicine Department (SMGM) is involved in scientific activity at the SJD Barcelona Children's Hospital and the SJD Research Institute (IRSJD). Through the clinical and laboratory activity at the SMGM, we carry out research into genetic and metabolic diseases.

Biomedical research projects

Staff in the department work on biomedical research projects funded by competitive public and private bodies (Carlos III Health Institute, CIBERER).

CIBERER Research groups 

We are part of two CIBER research groups on Rare Diseases: U703, led by Rafael Artuch (alongside Jaume Campistol).

Teaching

The SJD Barcelona Children's Hospital is a university hospital affiliated with the University of Barcelona. We share our knowledge and train professionals so that they can go on to specialise in high-complexity medicine.

Specialised training for internal medical residents (MIR/FIR)

Members of the department play an active role in undergraduate and postgraduate teaching at the University of Barcelona. Standing out among these activities, is the teaching on the Pediatrics modules on the Degree in Medicine, in the Pediatrics MIR and the Clinical Biochemistry FIR.

Master's in Neuropediatrics

We are involved in the theoretical and practical programme for Neuropediatrics, aimed at those holding a degree in Medicine and Surgery. Specialists in Pediatrics and Neurology.

  • Directed by: Dr Carme Fons Estupiña
  • Number of credits: 120 ECTS
  • Duration: 2 years