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

RODOLICO, Carmelo;TOSCANO, Antonio;
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
Inglese
ELETTRONICO
7
1
37
37
1
http://www.ojrd.com/content/7/1/37
Internazionale
Esperti anonimi
Laminopathies; Emery-Dreifuss Muscular Dystrophy; Dilated Cardiomyopathy with Conduction Defects; Mandibuloacral Dysplasia; Familial Partial Lipodystrophy Type 2; Hutchinson-Gilford Progeria Syndrome; Rare Diseases; Networking activity; interdisciplinary approach to diseases
info:eu-repo/semantics/article
Benedetti, S.; Bernasconi, P.; Bertini, E.; Biagini, E.; Boriani, G.; Capanni, C.; Carboni, N.; Cenacchi, G.; Columbaro, M.; D'Adamo, M.; D'Amico, A.;...espandi
14.a Contributo in Rivista::14.a.1 Articolo su rivista
42
262
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/2458022
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