Developmental Pathology

Rare diseases studied:

• Congenital defects
• Genomic disorders (syndromes caused by genomic rearrangements)
• Developmental disorders associated with intellectual disability

Objective:
To address disorders resulting from abnormal embryonic development, regardless of their cause, which lead to congenital malformations or cognitive developmental disorders, with particular relevance in childhood and during the individual’s growth and development period.

The specific objectives are:

1. to promote the development of genomic diagnostic tools for diseases of interest within the program;
2. to lead CIBERER research on innovative therapies, with special emphasis on gene and fetal therapies;
3. to strengthen clinical research through close collaboration with national reference hospitals; and
4. to develop tools for epidemiological research in rare diseases.

Scientific Coordinator:Ruiz Pérez, Víctor Luis

Full member groups constituting the Research Program:

1.        Borrego López, Salud – U702
2.        Fillat, Cristina – U716
3.        Gratacòs, Eduard – U719
4.        Lapunzina Badía, Pablo D. – U753
5.        Moreno Galdó, Antonio José – U712
6.        Pérez Jurado, Luis – U735
7.        Ruiz Pérez, Víctor Luis – U760

Associated Clinical groups constituting the Research Program

1.        Galán Gómez, Enrique – GCV23/ER/2
2.        Guillén Navarro, Encarnación – GCV14/ER/1
3.        Picó Alfonso, Antonio – GCV14/ER/13
4.        Ramos Fuentes, Feliciano J. – GCV14/ER/2