MDS Podcast Genetic dystonias and understanding molecular pathways • 2024 MDS Congress
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Oct 7, 2024 Michael Zer, a professor at the Technical University of Munich and an expert in gene discovery, dives into the fascinating world of genetic dystonias. He discusses groundbreaking advancements in identifying dystonia-related genes using next-generation sequencing. The conversation uncovers critical molecular pathways that play a role in the condition, such as the integrated stress response. Zer also emphasizes the potential for translating these discoveries into effective treatments, highlighting the links between dystonia and neurodevelopmental disorders.
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Dystonia Gene Discovery
- Dystonia gene discovery began in the 1990s with GCH1, followed by TOSYN1A and THAP1.
- Next-generation sequencing after 2010 significantly accelerated the identification of dystonia-related genes.
Population-Specific Genes
- Different populations exhibit both overlapping and unique dystonia-related genes.
- Increasing sample sizes within populations reveal additional implicated genes.
Developmental Origin
- Dystonia's origin is more likely developmental than degenerative, indicated by MRI and phenotypic observations.
- Around 70% of dystonia-related genes are linked to neurodevelopmental disorders.