Purpose of the STSM: The main purpose of the STSM was to learn the small pool PCR (SP-PCR) technique, which is used to size the CTG expansion in the DMPK gene in myotonic dystrophy type 1 (DM1) patients. Knowing the CTG expansion size, which has been shown to be very heterogeneous among patients and tissues, is important for both understanding phenotype variability among DM1 patients and evaluation of potential treatment effects. The applicant also brought and sized the CTG expansion in eight DNA samples extracted from patient’s cell lines that were used to test an antisense treatment for DM1.
Grantee name: Judit Núñez Manchón
STSM start and end date: 20/05/2022 to 09/06/2022
Title: CTG expansion determination in Myotonic Dystrophy patients
Host lab: Prof. Jovan Pešović, Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade (Belgrade, Serbia)