Brain
|
Decoding dystonia: lnvestigation of non-coding genetic variants and molecular mechanisms using elaborative analysis of transcriptomic and genomic data
Funding line:
First and Second Applications
Ivana Džinović
(© TUM Klinikum Technische Universität München)
Dystonia is a frequent movement disorder that can severely affect quality of life and in many cases has a genetic background. This project aims to improve diagnosis and support more personalized treatments by uncovering hidden genetic causes of disease. It will focus on DNA changes often missed by standard testing, including non-coding variants that alter gene regulation and RNA processing. The study will also screen for abnormal gene expression and splicing patterns to identify novel disease causes. By integrating genomic, transcriptomic, and clinical data, the project seeks to improve the molecular understanding of dystonia, supporting earlier diagnosis and future targeted therapies.