The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.

Benedetti, S., Bernasconi, P., Bertini, E., Biagini, E., Capanni, C., Columbaro, M., et al. (2012). The empowerment of translational research: lessons from laminopathies. ORPHANET JOURNAL OF RARE DISEASES, 7(1), 37 [10.1186/1750-1172-7-37].

The empowerment of translational research: lessons from laminopathies

D'ADAMO, MONICA;NOVELLI, GIUSEPPE;SBRACCIA, PAOLO;
2012-01-01

Abstract

The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.
2012
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/09 - MEDICINA INTERNA
Settore MED/03 - GENETICA MEDICA
English
Con Impact Factor ISI
Progeria; Genetic Diseases, Inborn; Humans; Nuclear Envelope; Muscular Dystrophy, Emery-Dreifuss; Lipodystrophy; Rare Diseases; Interdisciplinary Communication; Lamins; Translational Medical Research
Benedetti, S., Bernasconi, P., Bertini, E., Biagini, E., Capanni, C., Columbaro, M., et al. (2012). The empowerment of translational research: lessons from laminopathies. ORPHANET JOURNAL OF RARE DISEASES, 7(1), 37 [10.1186/1750-1172-7-37].
Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Capanni, C; Columbaro, M; D'Adamo, M; D'Amico, A; Fontana, M; Lattanzi, G; Azzanti, L; Mercuri, E...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/77913
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