This project uses gene-specific RNA sequencing to investigate transcript diversity and gene regulation in patient-derived cellular models of a rare neurodegenerative disorder with features of accelerated ageing. By characterizing disease-associated RNA processing events and their relationship to phenotypic variability. The study aims to identify molecular mechanisms underlying tissue-specific vulnerability, particularly in the nervous system. Because this disorder shares key biological pathways with physiological ageing, the project is conducted in the broader context of understanding physiological ageing-associated degenerative processes.
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