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Research Groups

Applied research on neuromuscular disorders

Equip Cecilia Jimenez 2018

Coordinators of the group

  • Cecília Jiménez-Mallebrera

Our research lines are currently focused on two main areas:

  1. Muscular dystrophies, including Duchenne muscular dystrophy (DMD) and congenital muscular dystrophies (CMD), with a special focus on the role of the extracellular matrix and collagen VI.
  2. Mitochondrial diseases incluing mithocondrial DNA depletion syndromes affecting muscle.

In both cases, by means of "omics" techniques, bioinformatics and cell models, the gene expression footprint of patients' muscle has been determined in comparison to healthy muscle. This has allowed the identification of new pathophysiological mechanisms, diagnostic markers and therapeutic targets for these disorders.

In collaboration with the University of Barcelona and CIBERDEM, we have described a new function for collagen VI in the regulation of glucose metabolism in muscle cells and adipocytes. This finding forms the basis of a pending patent.

The general goals of this research line are:

  • To acquire a greater knowledge of the pathophysiology of childhood neuromuscular disorders to identify potential therapeutic targets.
  • To improve pathological and molecular diagnosis of patients by serarching for novel biomarkers and new candidate genes.
  • To systematically study the natrual history of congenital muscle disease un our patient population in readiness for clinical trials.
  • To foster research in this field by gathering tissues and cells, collaborating with other centres and training technical and research personnel.

Participation in international networks aush as TREAT-NMD network (www.treat-nmd.eu) and COST action (www.exonskipping.eu).

An Interview with Dra. Ceciclia Jiménez-Mallebrera: “The discovery of GDF15 overexpression in patients with mitochondrial disease opened a door towards an improvement in their diagnosis

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