1. The empowerment of translational research: lessons from laminopathies
- Author
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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, M., R, ., Fontana, M., Gambineri, A., Lattanzi, G., Liguori, R., Maraldi, N. M, Mazzanti, L., Mercuri, E., Mongini, T., Morandi, L. O., 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, Carmelo, Sbraccia, P., Scarano, E., Siciliano, G., Squarzoni, S., Toscano, Antonio, Vercelli, L., Ziacchi, M., 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, and Ziacchi M
- Subjects
Settore MED/09 - Medicina Interna ,Lipodystrophy ,lcsh:Medicine ,Familial Partial Lipodystrophy Type 2 ,Hutchinson-Gilford Progeria Syndrome ,Translational Research, Biomedical ,Progeria ,Medicine ,Genetics(clinical) ,Pharmacology (medical) ,Interdisciplinary communication ,Muscular Dystrophy ,Emery–Dreifuss muscular dystrophy ,Muscular dystrophy ,Empowerment ,Translational Medical Research ,Letter to the Editor ,Genetics (clinical) ,interdisciplinary approach to disease ,media_common ,Medicine(all) ,integumentary system ,Emery-Dreifuss ,General Medicine ,Laminopathies ,Emery-Dreifuss Muscular Dystrophy ,Dilated Cardiomyopathy with Conduction Defects ,Mandibuloacral Dysplasia ,Rare Diseases ,Networking activity ,interdisciplinary approach to diseases ,Lamins ,Muscular Dystrophy, Emery-Dreifuss ,RARE DISEASES ,Laminopathie ,Genetic Diseases ,Dilated Cardiomyopathy with Conduction Defect ,Hutchinson Gilford Progeria Syndrome ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Nuclear Envelope ,media_common.quotation_subject ,Translational research ,NO ,Genetic Diseases, Inborn ,Humans ,Interdisciplinary Communication ,Settore MED/39 - NEUROPSICHIATRIA INFANTILE ,business.industry ,lcsh:R ,nutritional and metabolic diseases ,medicine.disease ,Mandibuloacral dysplasia ,Inborn ,Settore MED/03 - Genetica Medica ,Family medicine ,business - 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.
- Published
- 2012