Orphanet Journal of Rare Diseases (Jun 2012)

The empowerment of translational research: lessons from laminopathies

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

DOI
https://doi.org/10.1186/1750-1172-7-37
Journal volume & issue
Vol. 7, no. 1
p. 37

Abstract

Read online

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