Learning the lab techniques associated with exon skipping therapy using antisense oligonucleotides
Jakub Malcher
In April 2014 I was on my Short Term Scientific Mission (STSM) at the Department of Laboratory Medicine at Karolinska Insitute in Stockholm Sweden where I was hosted by Dr. Samir El-Andaloussi. The goal of my STSM was to learn the lab techniques applie …
SIFT analysis of NOTCH3
Julie Rutten
From the 14th of July until the 20th of September 2013, I have worked at the Institute for Stroke and Dementia research (ISD, Ludwig – Maximilians – University ) in Munich, using funding from the short term scientific mission (STSM ) program from COST. …
The TREAT-NMD global Duchenne muscular dystrophy (DMD) patient registry
Zaïda Koeks
From the 21st of October until the 2nd of November I worked on a short term scientific mission (STSM) at the TREAT-NMD office at the Institute of Genetic Medicine, Newcastle UK, using COST funding. TREAT-NMD recently succeeded in the collection of an u …
Networking towards clinical application of antisense-mediated exon skipping
Estibaliz Ruiz
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 …
Evaluation of microminicircle vector for splice correction in vivo
Sofia Stenler
The aim of this project is to evaluate the miMC as vector for splice switching further by assaying it in mouse models for other diseases where splice correction is a possible cure. We are currently working with Duchenne’s Muscular Dystrophy and Spinal …
Protocols for cryo-sectioning and subsequent immunohistological targeting dystrophin staining
Sofia Stenler
The aim of this STSM was to return to the Wells group at the Royal Veterinary College for analysis of the muscle from the injections performed in COST-ONLINE_STSM-BM1207-20188. During that STSM, we performed experiments in mdx mice with the main purpos …
