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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.

How to apply

If you are interested in applying for the above PhD topic please follow the steps below:

  1. Contact the supervisor by email or phone to discuss your interest and find out if you woold be suitable. Supervisor details can be found on this topic page. The supervisor will guide you in developing the topic-specific research proposal, which will form part of your application.
  2. Click on the 'Apply here' button on this page and you will be taken to the relevant PhD course page, where you can apply using an online application.
  3. Complete the online application indicating your selected supervisor and include the research proposal for the topic you have selected.

Good luck!

This is a self funded topic

Brunel offers a number of funding options to research students that help cover the cost of their tuition fees, contribute to living expenses or both. See more information here: The UK Government is also offering Doctoral Student Loans for eligible students, and there is some funding available through the Research Councils. Many of our international students benefit from funding provided by their governments or employers. Brunel alumni enjoy tuition fee discounts of 15%.