HDFACT82 · Functional characterisation of CCDC82 and its interaction with FACT in Huntington’s disease

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Project objective

Huntington’s disease (HD) is an inherited, fatal brain disorder that causes progressive motor, cognitive, and psychiatric decline, affecting around 45,000 individuals in Europe, with no cure currently available. Although the genetic cause of HD—a CAG expansion in the huntingtin gene—is well established, patients carrying the same mutation often differ widely in age at onset, clinical presentation, and disease progression. Recent large-scale genetic studies have identified modifier genes that influence these differences, opening new therapeutic avenues. However, some of these modifiers remain poorly understood, limiting the translation of genetic discoveries into understanding of pathogenic mechanisms.HDFACT82 will deliver the first systematic characterisation of one such genetic modifier, CCDC82, and test its role in HD progression. The project builds directly on strong preliminary evidence I have generated, linking CCDC82 to chromatin regulation via the FACT complex. By combining hypothesis-driven and unbiased multi-omic approaches across cellular and animal models, together with post-mortem human brain tissue analyses, HDFACT82 will generate comprehensive datasets to uncover the biological roles of CCDC82 and define how these contribute to neuronal vulnerability and disease progression in HD, potentially paving the way for novel therapies.I will build on my PhD and postdoctoral training in molecular neurobiology, proteomics, and stem cells while working under the guidance of Prof. Jose J. Lucas, a leader in HD. His lab at the CBMSO, a top-tier research centre, offers a unique environment with state-of-the-art facilities, a dynamic scientific community, and strong translational networks. The MSCA fellowship will be crucial for advancing my scientific and transferable skills and represents a transformative step in my career, positioning me to achieve my ultimate goal of becoming an independent researcher.

Original text from CORDIS.

Participants

• AGENCIA ESTATAL CONSEJO SUPERIOR DE INVESTIGACIONES CIENTIFICAS · MadridCoordinatorSpain

Links

• View on CORDIS
• DOI: 10.3030/101272819