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

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.

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.