Oferta TFM | ID 41

Huntington’s disease (HD) is an inherited, fatal neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric decline. It affects approximately 45,000 individuals in Europe, and no disease-modifying treatment is currently available. Although HD is caused by a CAG repeat expansion in the HTT gene, patients carrying the same mutation often differ markedly in age at onset, clinical presentation, and disease progression. Recent large-scale genetic studies have identified modifier genes that contribute to this variability, opening new avenues for therapeutic intervention. However, the molecular functions of several of these modifiers remain poorly understood, limiting our understanding of the mechanisms underlying disease pathogenesis.

This project focuses on the molecular characterization of CCDC82, a human-validated genetic modifier of Huntington’s disease. By combining molecular and cellular biology with transcriptomic, proteomic and bioinformatic approaches, the project aims to define the biological function of CCDC82 and uncover molecular pathways that may contribute to disease pathogenesis.