Page 18 - MemoriaER-Eng

SCIENTIFIC PROGRAMMES

Pediatric and Developmental Medicine

Pediatric and Developmental Medicine Programme: consisting of 8 research
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groups from different fields, including clinical genetics, molecular genetics, molecular
biology, cell biology, epidemiology and fetal medicine.
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• Congenital defects
Rare Diseases
• Genomic disorders (syndromes caused by genomic rearrangements).
Studied
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• Disorders of the development associated with learning disability/intellectual impair-
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ment.

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To approach disorders conditioned by anomalous embryonic development, regardless
Objectives
of the cause, involving congenital malformation or a cognitive development disorder,

particularly relevant during childhood and during the period of growth and develop-
ment of the individual.

The specific objectives are: 1) to encourage the development of genomic diagnostic

tools for diseases of interest of the RPs, 2) to lead CIBERER research in Innovative
Therapies, with a particular emphasis on gene and fetal therapies, 3) to boost clinical

research as a result of close collaboration with national hospitals of reference, and 4)

to develop tools for epidemiological research in rare diseases.

Groups Scientific Coordinator: Dr. Pablo Lapunzina, U753.
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forming Dr. Cristina Fillat, U716.
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the RP
Dr. Eduard Gratacs, U719.
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Dr. Ma Luisa Martnez-Fras, U724.
• Dr. Montserrat Mil, U726.
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• Dr. Luis Prez Jurado, U735. 20
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• Dr. Manuel Posada, U758. R
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• Dr. Vctor Luis Ruiz Prez, U760. E
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• Dr. Juan Luque, RP Scientific Manager.
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