
We perform genetic and genomic analyses for the diagnosis and genetic counselling of our patients.
Activity in the Genetic and Molecular Medicine Department at the SJD Barcelona Children's Hospital focuses on genetic diseases appearing in infancy and adolescence.
We receive consultations from all of the Hospital's departments. We maintain constant scientific collaboration with the Neurology and Neonatology Departments, as well as with Obstetrics, Gynaecology and Fetal Medicine (BCNatal), since, in our Department , we perform the tests necessary for antenatal genetic and reproductive diagnosis.
We work closely with the Pediatric Institut for Rare Diseases (IPER) and we form part of the group of diagnostic laboratories used by the Hospital.
We perform genetic and genomic analyses for diagnosis and genetic counselling of our patients, as well as for our researchers.
Accreditations
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 mission is to offer patients, families and physicians gene- and genome-based studies that facilitate the diagnosis of genetic disease and genetic advice or counselling that may reveal the risks of developing a hereditary monogenic disease (where a single gene is involved), congenital anomalies, intellectual disability, metabolic disorders or chromosomal or genomic rearrangements.
We have a clinical genetic consultation, in which we evaluate children with dysmorphic conditions, and genetic counselling.
The most advanced technology
We have a clinical genetic consultation, in which we evaluate children with dysmorphic conditions, and genetic counselling.
We use advanced technology to identify the genetic variants in patients' genomes involved in the disease being treated. It is essential to offer personalised treatment. This technology allows us to detect any variants related to heredity and therefore determine susceptibility to a disease. This enables risk elimination, disease prevention or early diagnosis.
We have a clinical genetic consultation, in which we inform, advise and assess risks for family members.
We offer genetic counselling
We have a clinical genetic consultation, in which we inform, advise and assess risks for family members
We know that making information on hereditary diseases available affects families emotionally, which is why we rely on specific genetic counselling to assess and address the effects this has.
We are in touch with professionals from other national and international centres, and we actively take part in different research projects.
We cooperate and do research with international centres
We are in touch with professionals from other national and international centres, and we actively take part in different research projects.
Our physicians and investigators belong to the U703 and U732 units of the CIBER on Rare Diseases (CIBERER); the TREAT-CMT study of Charcot-Marie-Tooth disease, funded by Instituto de Salud Carlos III within the IRDiRC's international framework; and the EFACTS study of Friedreich's ataxia, funded by the European Commission's 7th Framework Programme, amongst others.
“We integrate the genome and genetics into children's and adolescents' healthcare to understand how they cause illness”
Specialties and services
Besides our labs, we have a clinical genetic consultation, in which we evaluate children with dysmorphic conditions, and genetic counselling, where we inform, advise and assess risks for family members
- Cytogenetics lab
We are studying chromosomes and the alterations that lead to chromosomal and genomic disorders.
- Molecular genetics lab
We diagnose monogenic disorders, genomic rearrangements and microduplications. We operate a DNA bank where samples are stored for future tests.
- Biochemical genetics lab
We perform a full genome study in inherited metabolic diseases.
- Clinical biochemistry lab – metabolic diseases
We study inherited metabolic diseases by identifying metabolites in biological samples (plasma, urine, cerebrospinal fluid) and analysing gene panels.
- Genome Diagnostics Platform
We have genome sequencing technology that enables us to study regions of the genome using massive parallel sequencing and CGH arrays.
- Confocal microscopy and cell imaging platform
This platform provides advanced diagnostic light microscopy services and aims to explore innovative ways to use confocal and super-resolution microscopy in the field of cell diagnostics.
- Translational diagnostic program
Together with Neurogenetics and Molecular Medicine of the IRSJD, we investigate the pathogenic effect of genetic variants of uncertain significance or when there is an inconsistency between the clinical phenotype and the patient's genotype.
Our professionals
“We integrate the genome and genetics into children's and adolescents' healthcare to understand how they cause illness”.






Research
The Genetics and Molecular Medicine Department (SMGM) develops scientific activity at SJD Barcelona Children's Hospital and the Sant Joan de Déu Research Institute (IRSJD). The SMGM's clinical and lab-related activities involve research into genetic and metabolic disorders.
Biomedical research projects
Members of the Department develop biomedical research projects funded by competitive public and private agencies (Instituto de Salud Carlos III, the state-run RD&I plan of the Spanish Ministry of Economy and Competitiveness, the European Commission, CIBERER, Ramón Areces Foundation, 'Amigos de Nono' Foundation and Isabel Gemio Foundation).
CIBERER research groups
We take part in two research groups of the CIBER on Rare Diseases: U732 and U703, led by Francesc Palau and Rafael Artuch (together with Jaume Campistol), respectively.
Neurogenetics and Molecular Medicine Group
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.
Teaching
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