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Contenuto archiviato il 2024-05-29

Identification of early disease markers, novel pharmacologically tractable targets and small molecule phenotypic modulators in Huntington's Disease'

Obiettivo

Huntington's is a devastating neurodegenerative disease with many unmet patient needs. There are no known ways of slowing or preventing the neuro-degeneration, and clinical trials in man are hampered by the slow disease progression and the absence of suitable biomarkers of short-term progression. The genetics of HD is characterized, and involves the expansion of a polyglutamine tract at the amino-terminus of the Huntington gene (HTT). However, the translation of this knowledge into therapeutic and diagnostic approaches is hampered by the scarce knowledge of HTT biology, the paucity of information on how cellular signalling pathways interact with the HD mutation, and the lack of systematic and modern approaches aimed at identifying useful bio-predictors of disease progression in individuals diagnosed with HD.

The proposal addresses key areas of HD patient need, namely the discovery and development of therapeutically meaningful novel targets and biomarkers. To achieve these aims, this consortium representing complementary and specific know-how and expertise which will be integrated and further developed in the course of the project. High throughput-RNAi, focusing on genes encoding pharmacologically tractable proteins rather than on a whole-genome approach, will be employed on a novel and robust HD cellular disease model to identify proteins whose inhibition of expression is protective against the HD mutation. Following a stringent target validation approach, two such validated targets will be selected for assay development and primary screening activities, to identify druggable compounds active on the target and efficacious against the HD mutation in cellular disease models. In parallel, the biomaterial repository made available to the consortium from a disease-specialist academic partner will be investigated through state-of-the-art metabonomics approaches to identify biomarkers predictive of disease onset.

Campo scientifico (EuroSciVoc)

CORDIS classifica i progetti con EuroSciVoc, una tassonomia multilingue dei campi scientifici, attraverso un processo semi-automatico basato su tecniche NLP. Cfr.: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.

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FP6-2005-LIFESCIHEALTH-7
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Coordinatore

SIENA BIOTECH SPA
Contributo UE
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Partecipanti (5)