Developing Therapies for Congenital Muscular Dystrophies



Developing Therapies for Congenital Muscular Dystrophies: Gene Editing of Dominant Mutations in Collagen VI Genes Restores the Extracellular Matrix in Patient Cells

Speaker: Dra Cecilia Jiménez-Mallabrera · Coordinator of the research group "Applied research in neuromuscular diseases".

Despite being the second most common form of congenital muscular dystrophies, there are currently no effective treatments available for collagen VI-related dystrophies (COL6-RDs), a fact that Dr. Cecilia Jiménez-Mallebrera and her research team hope to change using CRISPR technology.

Jiménez-Mallebrera has been studying neuromuscular diseases for almost her entire career, specialising in ultra-rare congenital muscular dystrophies in paediatric patients. Her recent paper, published in the International Journal of Molecular Sciences, demonstrated the use of CRISPR-Cas9 gene editing to alleviate the pathogenic effects of a dominant negative mutation in the COL6A1 gene.

What will you learn from this webinar:

  • Congenital muscular dystrophies: the extracellular matrix in muscle diseases.
  • In vitro gene editing of human fibroblasts.
  • The relevance of using a range of precise and sensitive techniques to evaluate the efficiency of gene editing.

Webinar Programme:

  • 15.00 Welcome and introduction by CRISPR Medicine News
  • 15.05 Dr. Cecilia Jimenez-Mallebrera PhD 'Developing Therapies for Congenital Muscular Dystrophies
  • 15.45 Q & A with Cecilia Jimenez-Mallebrera PhD
  • 16.00 Close by CRISPR Medicine News

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