Purpose of the STSM:
The main objective of this STSM was to design antisense oligonucleotides (AON) to target the COL6A1 c.877 G>A mutation for their further characterization in our patients’ fibroblasts. The laboratory of developmental neurosciences at the Dubowitz Neuromuscular Centre, led by Prof. Muntoni, has a broad experience in using AONs for therapy within the area of neuromuscular disorders. Therefore, secondary objectives involved learning how to work with AONs in terms of transfection and efficacy evaluation in cell culture.
Grantee name: Sandra Pérez Ramos (Laboratory of Translational Neuromuscular Research. Neuromuscular Unit. Institute of Pediatric Research. Sant Joan de Deu Hospital. University of Barcelona. Barcelona, Spain).
STSM start and end date: 2019-04-23 to 2019-04-30
Title: Design of allele-specific Antisense Oligonucleotides for targeting dominant-negative missense mutations in collagen-VI
Host lab: Haiyan Zhou´s laboratory. Dubowitz Neuromuscular Centre. Great Ormond Street Institute of Child Health. University College London. London, UK