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GENETIC MEDICINE
Consisting of 12 research groups from different areas, including clinical genetics, molecular genetics, molecular and fundamental biology and bioinformatics .
Rare Diseases Studied
• • •
Lafora disease and other rare genetic epilepsies . Neuromuscular diseases: muscular dystrophies, spinal muscular atrophy .
Vascular diseases and diseases of the immune system: disorders affecting the vascular endothelium, causing pathologies such as HHT and complement defects .
Objectives: To incorporate Mendelian or complex diseases affecting an organ or system of the human body, using the hereditary factor as the fundamental criterion for incorporation in the programme . The specific objectives include:
• to lead the development of innovations in genomic platforms, • to offer support for pre-clinical research on rare epilepsies and related diseases, including Lafora
disease, and
• to boost physiopathological study for therapeutic and diagnostic applications in rare vascular pathologies and in complement-mediated pathologies .
Groups forming the RPs:
• Scientific Coordinator: Dr . Guillermo Antiñolo, U702 • Dr . Eduardo Tizzano Ferrari, U705 • Dr . Carmelo Bernabéu, U707 • Dr . Ángel Carracedo, U711
• Dr . Joaquín Dopazo, U715 • Dr . Erwin Knecht, U721 • Dr . Consuelo González Manchón, U734 • Dr . Santiago Rodríguez de Córdoba, U738 • Dr . Pascual Sanz, U742 • Dr . José Serratosa, U744 • Dr . Cecilio Giménez Martín, U751 • Dr . Margarita López Trascasa, U754 • Dr . Juan Luque, RP Scientific Manager
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