Purpose of the STSM: Myotonic dystrophy type I (DM1) is a neuromuscular disorder characterized by muscle wasting, myotonia and a wide range of symptoms affecting different organs and tissues.

Most of the samples used for the study of DM1 in vitro are obtained from muscle biopsies (myoblasts). Muscle biopsies are harmful procedures for patients and are not currently used in disease diagnosis, which difficulties the obtention of these specific samples for antisense oligonucleotides screenings in vitro, among other therapies. Nevertheless, skin biopsies are less harmful procedures for patients and provide fibroblasts, a useful cell type for differentiation to iPSCs. The obtention of iPSCs derived from these fibroblasts allows the differentiation to myoblasts, that could be used for AOs screening.

Due to the less harmful and easier procedure for obtaining the sample, differentiation of fibroblasts to iPSCs may allow the team from Biocruces Bizkaia Health Research Institute to test their therapeutic compounds on a larger range of patient samples, including a wider phenotypic spectrum in their studies.
Therefore, the main goals of this STSM were to learn how to culture, maintain and manage iPSCs and learn how to differentiate them into myoblasts, characterize them and test different DM1-targeting AOs. Also, they aimed to obtain different cell models for further screening at the home lab.

Grantee name: Andrea López Martínez

STSM start and end date: 16/03/2023 to 30/06/2023

Title: iPSC management and differentiation for antisense oligonucleotides screening
Host lab: Prof. Alex Garanto, Radboud University Medical Center (Nijmegen, NLH)