Networking towards clinical application of antisense-mediated exon skipping

Estibaliz Ruiz, Spain

Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Spain

Antisense mediated exon skipping in DMD aims to restore the expression of dystrophin protein. However, accurate quantification of dystrophin is not easy. During this STSM I was trained in several techniques required for the project I have just started at COST MC Member Dr Virginia Arechavala-Gomeza’s group in Spain, titled “Translational research in neuromuscular disorders: advanced dystrophin quantification for streamlined screening of RNA treatments” which aims to develop new methods to measure dystrophin protein in cultured cells.

Although I am an experienced lab technician, I have limited tissue culture experience and I had not worked in neuromuscular disorders in the past. During my week-long visit (1-6 December 2013) at the Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, led by COST member Francesco Muntoni, I learnt about the development of antisense-mediated exon skipping for rare diseases, focusing on Duchenne muscular dystrophy. I was trained in different tissue culture techniques, such as generation of primary cultures from biopsies, muscle cell culture (morphology, growth rate, differentiation assays), storage of cultures in liquid nitrogen ormycoplasma testing. These techniques will be routinely used in my search for a better dystrophin quantification method in cultures. I was also trained in the immunohistochemical dystrophin quantification method in muscle sections developed by Dr Arechavala-Gomeza and had the opportunity to evaluate some samples.

Finally I want to mention the warm reception of the Muntoni’s lab team and their kindness and hospitality inviting me to the Christmas dinner. I am very grateful both professionally and personally.

Best Regards,
Estibaliz Ruiz Del Yerro

December 2013