We are the combination of four hospitals: the General Hospital, the Children’s Hospital, the Women’s Hospital and the Traumatology, Rehabilitation and Burns Hospital. We are part of the Vall d’Hebron Barcelona Hospital Campus: a world-leading health park where healthcare plays a crucial role.
Below we will list the departments and units that form part of Vall d’Hebron Hospital and the main diseases that we treat. We will also make recommendations based on advice backed up by scientific evidence that has been shown to be effective in guaranteeing well-being and quality of life.
Vols saber com serà la teva estada a l’Hospital Universitari Vall d’Hebron? Aquí trobaràs tota la informació.
The commitment of Vall d'Hebron University Hospital to innovation allows us to be at the forefront of medicine, providing first class care adapted to the changing needs of each patient.
Speaker: Luz Juebierre. Research Associate at Memorial Sloan Kettering Cancer Center
Vertebrate brain development is associated with prominent neuronal cell death and DNA breaks, but their causes and functions are not well understood. DNA transposable elements and transposase-derived genes could contribute to DNA breaks and somatic genome rearrangements, however their contributions to brain development are largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved vertebrate DNA transposase-derived gene with retained nuclease activity in human cells. We identified five unrelated consanguineous families with PGBD5 mutations using GeneMatcher. Affected individuals presented with disorder of intellectual disability, movement and seizures. In mice, Pgbd5 is required for the developmental induction of post-mitotic DNA breaks and recurrent somatic brain genome rearrangements. Single-nuclei RNA and ATAC sequencing of cerebral cortex showed that loss of Pgbd5 leads to aberrant differentiation and gene expression of distinct neuronal populations, including specific types of glutamatergic neurons, which can explain the features of PGBD5 deficiency in humans. Thus, PGBD5 is a transposase-derived gene required for brain development in mammals.
Host: Miguel Segura, Main researcher - Childhood Cancer and Blood Disorders (VHIR)
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