Open Access Letter to the Editor

The empowerment of translational research: lessons from laminopathies

Sara Benedetti1, Pia Bernasconi2, Enrico Bertini3, Elena Biagini4, Giuseppe Boriani4, Cristina Capanni5, Nicola Carboni6, Giovanna Cenacchi7, Marta Columbaro8, Monica D'Adamo9, Adele D’Amico3, Maria R D’Apice10, Marianna Fontana11, Alessandra Gambineri12, Giovanna Lattanzi5*, Rocco Liguori13, Nadir M Maraldi8, Laura Mazzanti14, Eugenio Mercuri15, Tiziana Mongini16, Lucia O Morandi2, Iria Neri17, Giovanni Nigro18, Giuseppe Novelli19, Michela Ortolani5, Renato Pasquali12, Antonella Pini20, Stefania Petrini3, Luisa Politano18, Stefano Previtali21, Lisa Pucci22, Claudio Rapezzi4, Giulia Ricci23, Carmelo Rodolico24, Paolo Sbraccia9, Emanuela Scarano14, Gabriele Siciliano23, Stefano Squarzoni5, Antonio Toscano24, Liliana Vercelli16 and Matteo Ziacchi4

Author Affiliations

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

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Orphanet Journal of Rare Diseases 2012, 7:37 doi:10.1186/1750-1172-7-37

Published: 12 June 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.

Keywords:
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