Letter to the Editor
The empowerment of translational research: lessons from laminopathies
1 Laboratory of Molecular Biology, Diagnosis and Research San Raffaele, San Raffaele Scientific Institute, Milan, Italy
2 Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy
3 Bambino Gesù Hospital, Rome, Italy
4 Institute of Cardiology, University of Bologna and Azienda Ospedaliera S.Orsola Malpighi, Bologna, Italy
5 National Research Council of Italy, Institute of Molecular Genetics, IGM-CNR, Unit of Bologna, via di Barbiano 1/10, 40136, Bologna, Italy
6 Neuromuscular Unit, Department of Cardiological and Neurological Sciences, University of Cagliari, Cagliari, Italy
7 Clinical Department of Radiological and Histopathological Sciences, University of Bologna, Bologna, Italy
8 Laboratory of Musculoskeletal Cell Biology, Istituto Ortopedico Rizzoli, Bologna, Italy
9 Department of Internal Medicine, University of Rome Tor Vergata, Rome, Italy
10 Fondazione Policlinico Tor Vergata, Rome, Italy
11 Fondazione G. Monasterio, CNR-Regione Toscana, Pisa, Italy
12 Division of Endocrinology, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy
13 IRCCS, Istituto delle Scienze Neurologiche di Bologna, Department of Neurological Sciences, Bologna University, Bologna, Italy
14 Department of Paediatrics, University of Bologna, Bologna, Italy
15 Department of Paediatrics, Child Neurology and Psychiatry, Catholic University, Rome, Italy
16 Center for Neuromuscular Diseases, Department of Neuroscience, University of Turin, Turin, Italy
17 Department of Internal Medicine, Aging and Nephrological Diseases, Dermatology, University of Bologna, Bologna, Italy
18 Department of Experimental Medicine, Cardiomyology and Medical Genetics II, University of Naples, Naples, Italy
19 San Pietro Fatebenefratelli Hospital, Rome, Italy
20 UOC Paediatric Neuropsychiatry, Bellaria-Maggiore Hospital, Bologna, Italy
21 Division of Neuroscience and Institute of Experimental Neurology (INSPE), San Raffaele Scientific Institute, Milan, Italy
22 Diatheva SRL, Fano (PU), Italy
23 Department of Neuroscience, University of Pisa, Pisa, Italy
24 Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy
Orphanet Journal of Rare Diseases 2012, 7:37 doi:10.1186/1750-1172-7-37
Published: 12 June 2012Abstract
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.



