Page 15 - MemoriaER-Eng

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Genetic Medicine

Genetic Medicine Programme: consisting of 14 research groups from different Á

fields, including clinical genetics, molecular genetics, molecular and fundamental é
biology and bioinformatics.
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Rare Diseases • Lafora disease and other rare genetic epilepsies.
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Studied
• Neuromuscular diseases: muscular dystrophies, spinal muscular atrophy, Char-
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cot-Marie-Tooth neuropathy, Friedreich’s ataxia.
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• Vascular diseases and diseases of the immune system: disorders affecting the

vascular endothelium, causing pathologies such as HHT and complement defects.
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Objectives
To incorporate Mendelian or complex diseases affecting an organ or system of the ó
human body, using the hereditary factor as the fundamental criterion for incorpo-

ration in the programme.

Specific objectives include: 1) to lead the development of innovations in genomic

platforms, 2) to promote translational research in neuromuscular diseases, 3) to
offer support for pre-clinical research on rare epilepsies and related diseases, inclu-
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ding Lafora disease, and 4) to boost physiopathological study for therapeutic and

diagnostic applications in rare vascular pathologies and in complement-mediated
pathologies.

Scientific Coordinator: Dr. Guillermo Antiolo, U702.
Groups
• Dr. Eduardo Tizzano Ferrari, U705.
forming
• Dr. Carmelo Bernabu, U707.
the RP
• Dr. ngel Carracedo, U711.
• Dr. Joaqun Dopazo, U715. 13
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• Dr. Erwin Knecht, U721.
T
OR
• Dr. Francesc Palau Martnez, U732. P
RE
• Dr. Consuelo Gonzlez Manchn, U734. L
• Dr. Santiago Rodrguez de Crdoba, U738. A
NU
• Dr. Pascual Sanz, U742. N
A
• Dr. Jos Serratosa, U744. R /
E
• Dr. Javier Daz Nido, U748. ER
• Dr. Cecilio Gimnez Martn, U751. B
CI
• Dr. Margarita Lpez Trascasa, U754.

• Dr. Juan Luque, RP Scientific Manager.
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