The empowerment of translational research: lessons from laminopathies

Sara Benedetti, Pia Bernasconi, Enrico Bertini, Enrico Silvio Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Nicoletta Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele Damico, Adele D'Amico, Maria Rosaria Dapice, Marianna Fontana, Alessandra Gambineri, Giovanna Lattanzi, Rocco Liguori, Nadir M MaraldiLaura Mazzanti, Eugenio Maria Mercuri, Tiziana Mongini, Lucia O Morandi, Iria Neri, Giovanni Nigro, Giuseppe Novelli, Giada 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, Emanuele Scarano, Gabriele Siciliano, Stefano Squarzoni, Antonio Toscano, Liliana Vercelli, Matteo Ziacchi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)37-37
Numero di pagine1
RivistaOrphanet Journal of Rare Diseases
Volume7
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Genetic Diseases, Inborn
  • Humans
  • Interdisciplinary Communication
  • Lamins
  • Lipodystrophy
  • Muscular Dystrophy, Emery-Dreifuss
  • Nuclear Envelope
  • Progeria
  • Rare Diseases
  • Translational Medical Research

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