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.
Meet the Principal Investigator(s) for the project
Dr Sara Anjomani Virmouni - Sara was educated at the University of Tehran, where she was awarded a Bachelor degree in animal sciences with first class honours in 2008. She moved to the Biosciences Division at СʪÃÃÊÓƵ London to undertake her MSc in Molecular Medicine and Cancer Research. In 2011, Sara was awarded a scholarship by the School of Health Sciences and Social Care, СʪÃÃÊÓƵ London to investigate Friedreich’s ataxia (FRDA) disease mechanisms using FRDA mouse models and cells under the supervision of Dr Mark Pook. She finished her PhD in 2013 and was awarded Vice Chancellor's best doctoral research prize. She continued her work as a Postdoctoral Research Fellow at СʪÃÃÊÓƵ London to study the efficacy and tolerability of histone methyltransferase (HMTase) inhibitors in FRDA. Sara then joined the Institute of Cancer Research (ICR) as a Postdoctoral Research Fellow in 2015 to study the signaling and metabolic networks in breast cancer. In 2018, she was awarded a research grant from Friedreich’s Ataxia Research Alliance (FARA) and joined СʪÃÃÊÓƵ London as a Principal Investigator to investigate the metabolic signatures of FRDA. Subsequently, she was appointed as a lecturer in Biosciences. Her research continues to investigate FRDA disease pathogenesis and therapy and identify the most effective therapy for FRDA.
Related Research Group(s)
Genome Engineering and Maintenance - Diverse research network focused on molecular, cellular, organismal and computational aspects of genome biology.
Partnering with confidence
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Project last modified 21/11/2023