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

Dr. Cecilia Jimenez-Mallebrera​​​​​​​ PhD, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

Dr. Cecilia Jimenez-Mallebrera received her PhD in Genetics from the University of London in 2001, and trained in Neuromuscular Diseases at the Dubowitz Neuromuscular Centre under the supervision of Francesco Muntoni and Caroline Sewry. Her research focused on the then emerging congenital muscular dystrophies related to the extracellular matrix, in particular the alpha-dystroglycan glycosylation defects and collagen VI-related dystrophies.

In 2010, she moved to Barcelona Children´s Hospital with a Spanish Government starting grant where she established a translational and multidisciplinary research group which she has lead since then. The Neuromuscular Group is part of the Institut de Recerca Sant Joan de Déu which specialises in research in rare paediatric diseases. The laboratory is an international referral centre for the diagnosis of collagen VI-related disorders, which has driven the development of novel and precise tools including advanced microscopy and machine learning for the study of collagen VI. The group was the first to describe the transcriptome of fibroblasts and skeletal muscle from patients with collagen VI-related dystrophies. which helped towards the understanding of the disease mechanisms. In the last 5 years, they have been investigating mutation-correcting strategies for these conditions with antisense oligonucleotides and CRISPR-Cas9.

Dr. Jimenez-Mallebrera participates in several initiatives to promote the development of advanced therapies for neuromuscular diseases including the COST Action on Delivery of Antisense RNA Therapeutics (DARTER) and the Spanish CIBERER working group on Gene Therapy and Genome Editing. She combines her research with a faculty position in the Department of Genetics at the University of Barcelona, and she is the current president of the Scientific Committee of the Institut de Recerca Sant Joan de Déu. Her work has so far resulted in more than 90 publications in peer-reviewed journals and 1 patent, and her research is supported by various public national and international agencies (mainly the Instituto de Salud Carlos III) and private foundations such as Fundación Noelia for Collagen VI-Related Dystrophies.

Read our CMN interview with Dr. Cecilia Jimenez-Mallebrera here.