Project Category: Proyectos

Personalized medicine for Collagen VI Congenital Muscular Dystrophies
Project

Personalized medicine for Collagen VI Congenital Muscular Dystrophies

Project description: Congenital Muscular Dystrophies are a group of rare, highly disabling neuromuscular diseases with a reduced life expectancy. Over the last 10 years, the work of the research team led by Dr. C. Jiménez, from the Sant Joan de Déu University Hospital in Barcelona, ​​has focused on collagen VI related-diseases (COL6-RD), which it is...

Update of the international patient registry of Congenital Muscular Dystrophies (CMDIR)
Project

Update of the international patient registry of Congenital Muscular Dystrophies (CMDIR)

Project description: The International Registry of Congenital Muscular Dystrophies (CMDIR) was created in 2009 by CureCMD, a patient association of the United States, in collaboration with a group of other organizations, with the aim of identifying the global population of patients with congenital muscular dystrophies (CMD), which, among others, include collagen-VI CMD. The primary objectives...

RNA editing by recruiting endogenous ADAR using long RNAs to correct glycine substitutions in COL6-RD
Project

RNA editing by recruiting endogenous ADAR using long RNAs to correct glycine substitutions in COL6-RD

RNA editing by recruiting endogenous ADAR using long RNAs to correct glycine substitutions in COL6-RD Summary: Collagen VI-related dystrophies (COL6-RD) are commonly caused by dominant-negative pathogenic variants in the COL6A1,COL6A2 and COL6A3 genes, such as glycine substitutions of the conserved Gly-X-Y motives. For these mutations, allele-specific silencing approaches have been tested and have shown great...

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