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Towards a therapy for Friedreich’s Ataxia

There is currently no treatment or cure for Friedreich’s Ataxia (FRDA), therefore, there is an urgent, unmet need to alleviate the suffering and prolong the lives of individuals with FRDA. 

Friedreich’s ataxia (FRDA) is the most common of the hereditary ataxias and it accounts for at least 50% of cases of hereditary ataxia. There is currently no effective therapy for FRDA. The findings of this research will provide a unique opportunity to devise novel therapeutic strategies for FRDA patient diagnosis and treatment through targeting their unique metabolism.

Sphingolipid rheostat as a potential target for Friedreich’s Ataxia (FRDA)

Friedreich’s Ataxia (FRDA) is a rare genetic disease that is characterised by progressive damage to the nervous system and poor muscle coordination, eventually leading to impaired movement (ataxia). Sphingolipids are a class of lipids involved in cell signalling and cell recognition defects in sphingolipid metabolism has been implicated in Alzheimer’s, Huntingdon’s and Parkinson’s disease.

Our group has previously observed that the levels of sphingolipids, and the genes involved in their regulation are altered in cell lines derived from patients suffering from FRDA (link to project form) and mouse models of the disease. In this project, we will investigate the impact of targeting sphingolipids and their corresponding signalling pathways in FRDA samples. We aim to understand how these signalling pathways contribute to the pathogenesis of FRDA and ultimately, to identify novel therapies for the disease.

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Genome Engineering and Maintenance - Diverse research network focused on molecular, cellular, organismal and computational aspects of genome biology.

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Organisations interested in our research can partner with us with confidence backed by an external and independent benchmark: The Knowledge Exchange Framework. Read more.

Project last modified 24/05/2022