Genetics

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.

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.

Translational diagnostics and therapeutics programme

Shared between the Genetic Medicine Department and the IPER / Neurogenetics and Molecular Medicine laboratory at the SJD Research Institute, 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) 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, R&D&I State Plan from the Ministry of the Economy and Business, European Commission, CIBERER, the Ramón Areces Foundation, the Amigos de Nono Foundation, the Isabel Gemio Foundation).

CIBERER Research groups 

We are part of two CIBER research groups on Rare Diseases: U732 and U703, led by Francesc Palau and Rafael Artuch (alongside Jaume Campistol), respectively.

Neurogenetics and Molecular Medicine Group

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.