In 2016 was initiated a collaboration between the Cardiovascular Genetics Center (IDIBGI-UdG), Hospital Sant Joan de Déu in Barcelona and Andrés Marcio Foundation (FAM) in order to carry out a research project focused on the genetics analysis of laminopat
FAM has financed this project during the year 2016 and has recently extended funding for two more years (2017 and 2018). This agreement was recently signed in a visit from FAM to IDIBGI.
Laminopathies are a group of neuromuscular pathologies (NMDs) caused by genetic alterations in the LMNA gene, which codes for Lamin A / C protein, an essential component of the nuclear structure of cardiac cells. Genetic defects in this gene cause a wide range of diverse diseases with clearly defined phenotypes, such as premature aging, muscle disease, neuropathy, lipodystrophy or heart disease. Nowadays, genetic analyzes in patients affected by laminopathies have focused exclusively on the LMNA gene, although the expressiveness of the phenotypes can be very diverse. The objective of the collaboration is to analyze with NGS technology to families from around the world who are affected by laminopathies in order to identify not only the responsible mutation of the pathology but also other genetic modifiers that can explain the wide variety of phenotypes within the pathology itself. In IDIGBI, a new genetic panel for the study of mutations associated with NMD pathologies has been designed.