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PAEDIATRIC AND DEVELOPMENTAL MEDICINE
Consisting of 8 research groups from different fields, including clinical genetics, molecular genetics, molecular biology, cell biology, epidemiology and fetal medicine .
Rare Diseases Studied:
• • •
Congenital defects Genomic disorders (syndromes caused by genomic rearrangements) . Disorders of the development associated with learning disability/intellectual impairment .
Objectives: To approach disorders conditioned by anomalous embryonic development, regardless of the cause, involving congenital malformation or a cognitive development disorder, particularly relevant during childhood and during the period of growth and development of the individual . The specific objectives are:
• to encourage the development of genomic diagnostic tools for diseases of interest of the RPs, • to lead CIBERER research in Innovative Therapies, with a particular emphasis on gene and fetal
therapies, • to boost clinical research as a result of close collaboration with national hospitals of reference, and • to develop tools for epidemiological research on rare diseases .
Groups forming the RP:
• Scientific Coordinator: Dr . Pablo Lapunzina, U753 • Dra . Cristina Fillat, U716 • Dr . Eduard Gratacòs, U719 • Dra . Ma Luisa Martínez-Frías, U724
• Dra . Montserrat Milà, U726 • Dr . Luis Pérez Jurado, U735 • Dr . Manuel Posada, U758 • Dr . Víctor Luis Ruiz Pérez, U760 • Dr . Juan Luque, RP Scientific Manager
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CIBERER » Annual report 2014