Ministerio de Ciencia e Innovación

Paediatric and Developmental Medicine Programme

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 of the PdI

Main ResearcherInstitutionProvinceDetails
Fillat, Cristina Instituto de Investigaciones Biomédicas August Pi i Sunyer Barcelona
Gratacòs, Eduard Hospital Clínico y Provincial de Barcelona Barcelona
Lapunzina Badía, Pablo D. Servicio Madrileño de Salud Madrid
Palau Martínez, Francesc Fundación para la Investigación y Docencia Sant Joan de Deu Barcelona
Pérez Jurado, Luis Universidad Pompeu Fabra Barcelona
Posada de la Paz, Manuel Instituto de Salud Carlos III Madrid
Puig Sardà, Susana Hospital Clínico y Provincial de Barcelona Barcelona
Ruiz Pérez, Victor Luis Agencia Estatal Consejo Superior de Investigaciones Científicas Madrid
Nieto Toledano, Angela Agencia Estatal Consejo Superior de Investigaciones Científicas Alicante