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Dr Michael Themis

Dr Michael Themis
Reader - Health and Safety

PhD projects for research students

Investigating molecular disease mechanisms and therapy of Friedreich ataxia

Friedreich ataxia (FRDA) is a lethal inherited disease caused by GAA trinucleotide repeat expansion mutation within the FXN gene, leading to epigenetic modification of the FXN gene, decreased levels of frataxin expression, mitochondrial dysfunction, oxidative stress and cell death. The main areas of the body that are affected are the sensory nervous system, heart and pancreas, resulting in a clinical spectrum of uncoordinated movement (ataxia), heart failure and diabetes. The precise molecular disease effects of frataxin deficiency are unknown and there is currently no effective treatment for this disease.

This PhD project will involve molecular and cellular techniques to investigate FRDA disease mechanisms and therapy using FRDA patient and FRDA mouse model  cells and tissues. In particular, experiments will be performed to understand the role of FXN gene GAA repeat expansion mutation instability in disease progression and disease tissue specificity and the role of frataxin deficiency in oxidative stress, DNA damage and cell death. Preclinical therapeutic studies will be performed to test the effect of frataxin-increasing drug compounds and FXN gene therapy on FRDA cells and mouse models with the ultimate aim to develop potential novel therapies for FRDA.