Genetics

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.

Specialties and services

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 cytogenetics and haematology: Studying both chromosomal abnormalities in developmental syndromes and also malignant hemopathies, such as various types of leukaemia.
• Molecular cytogenomics: 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.

Translational diagnostics and therapeutics programme

Shared between the Genetic Medicine Department and the IPER / Neurogenetics and Molecular Medicine SJD Research Institute laboratory, this programme aims to decipher the function of genetic variants (functional genomics), as well as study molecular targets for precision therapies.

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.

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.