The empowerment of translational research: Lessons from laminopathies

Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele Damico, Maria Rosaria Dapice, Marianna Fontana, Alessandra Gambineri, Giovanna Lattanzi, Rocco Liguori, Nadir M. Maraldi, Laura Mazzanti, Eugenio Mercuri, Tiziana MonginiLucia O. Morandi, Iria Neri, Giovanni Nigro, Giuseppe Novelli, Michela Ortolani, Renato Pasquali, Antonella Pini, Stefania Petrini, Luisa Politano, Stefano Previtali, Lisa Pucci, Claudio Rapezzi, Giulia Ricci, Carmelo Rodolico, Paolo Sbraccia, Emanuela Scarano, Gabriele Siciliano, Stefano Squarzoni, Antonio Toscano, Liliana Vercelli, Matteo Ziacchi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article number37
JournalOrphanet Journal of Rare Diseases
Volume7
Issue number1
DOIs
Publication statusPublished - 2012

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Keywords

  • Dilated Cardiomyopathy with Conduction Defects
  • Emery-Dreifuss Muscular Dystrophy
  • Familial Partial Lipodystrophy Type 2
  • Hutchinson-Gilford Progeria Syndrome
  • interdisciplinary approach to diseases
  • Laminopathies
  • Mandibuloacral Dysplasia
  • Networking activity
  • Rare Diseases

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Benedetti, S., Bernasconi, P., Bertini, E., Biagini, E., Boriani, G., Capanni, C., Carboni, N., Cenacchi, G., Columbaro, M., D'Adamo, M., Damico, A., Dapice, M. R., Fontana, M., Gambineri, A., Lattanzi, G., Liguori, R., Maraldi, N. M., Mazzanti, L., Mercuri, E., ... Ziacchi, M. (2012). The empowerment of translational research: Lessons from laminopathies. Orphanet Journal of Rare Diseases, 7(1), [37]. https://doi.org/10.1186/1750-1172-7-37