The empowerment of translational research: lessons from laminopathies

Orphanet J Rare Dis. 2012 Jun 12:7:37. doi: 10.1186/1750-1172-7-37.

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.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / pathology*
  • Humans
  • Interdisciplinary Communication*
  • Lamins / deficiency
  • Lamins / genetics*
  • Lamins / physiology
  • Lipodystrophy / genetics
  • Lipodystrophy / pathology
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis
  • Muscular Dystrophy, Emery-Dreifuss / genetics
  • Muscular Dystrophy, Emery-Dreifuss / pathology
  • Nuclear Envelope / genetics
  • Nuclear Envelope / pathology
  • Progeria / genetics
  • Progeria / pathology
  • Rare Diseases
  • Translational Research, Biomedical*

Substances

  • Lamins