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.
The empowerment of translational research: lessons from laminopathies / Benedetti S; Bernasconi P; Bertini E; Biagini E; Boriani G; Capanni C; Carboni N; Cenacchi G; Columbaro M; D'Adamo M; D'Amico A; D'Apice MR; Fontana M; Gambineri A; Lattanzi G; Liguori R; Maraldi NM; Mazzanti L; Mercuri E; Mongini T; Morandi LO; Neri I; Nigro G; Novelli G; Ortolani M; Pasquali R; Pini A; Petrini S; Politano L; Previtali S; Pucci L; Rapezzi C; Ricci G; Rodolico C; Sbraccia P; Scarano E; Siciliano G; Squarzoni S; Toscano A; Vercelli L; Ziacchi M. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - ELETTRONICO. - 7:(2012), pp. 37.37-37.39. [10.1186/1750-1172-7-37]
The empowerment of translational research: lessons from laminopathies.
CENACCHI, GIOVANNA;COLUMBARO, MARTA;GAMBINERI, ALESSANDRA;LIGUORI, ROCCO;MARALDI, NADIR;MAZZANTI, LAURA;PASQUALI, RENATO;RAPEZZI, CLAUDIO;ZIACCHI, MATTEO
2012
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.| File | Dimensione | Formato | |
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