Paediatric and Developmental Medicine
Paediatric and Developmental Medicine Programme: this is made up of eight research groups from different fields, covering clinical genetics, molecular genetics molecular biology, cell biology, epidemiology and foetal medicine.
Rare diseases studied
- Birth defects.
- Genomic disorders (syndromes caused by genomic rearrangements).
- Development disorders associated with intellectual disability.
To tackle the disorders conditioned by anomalous embryo development, whatever may cause this, leading to a birth malformation or a cognitive development disorder, particularly significant in childhood and during the individual’s growth and development stage.
Its specific objectives are:
- To foster the development of genomic diagnosis tools for diseases of interest in the PdI.
- To lead the CIBERER’s research in innovative therapies, with special emphasis on gene and foetal therapies.
- To promote clinical research thanks to close cooperation with reference national hospitals.
- To develop tools for epidemiological research into rare diseases.
Research groups PdI