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:

  1. To foster the development of genomic diagnosis tools for diseases of interest in the PdI.
  2. To lead the CIBERER’s research in innovative therapies, with special emphasis on gene and foetal therapies.
  3. To promote clinical research thanks to close cooperation with reference national hospitals.
  4. To develop tools for epidemiological research into rare diseases.

Research groups PdI