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Sarah Foley is a postgraduate researcher based in the PMBRC and Department of Science, who graduated from the BSc (Hons) in Molecular Biology and Biopharmaceutical Science in WIT in 2018.
The PhD is entitled 'Development of enhanced gene therapy for the treatment of Canavan Disease, using directed evolution', The project is supervised by Dr Lee Coffey (PMBRC), and co-supervised by Dr Laurence Fitzhenry (PMBRC) and Professor Guangping Gao, Horae Gene Therapy Centre & Viral Vector Core at University of Massachusetts Medical School (UMASS).
Canavan Disease (CD) is a rare genetic neurodegenerative condition that is caused by mutation(s) in the ASPA gene, which encodes for aspartoacylase (ASPA) enzyme, vital for the synthesis of myelin and neuronal function and development of white matter throughout the brain. CD mutations cause a deficiency in ASPA enzyme, resulting in disease progression. Symptoms of CD include intellectual disability, loss of motor skills, abnormal muscle tone, visual degeneration & macrocephaly, with initial symptoms presenting in infancy, through missed development milestones. The life expectancy of CD patients is short with death often occurring in childhood, some survive to adolescence or early adulthood.
This research project aims to use directed evolution to identify mutations in the ASPA gene observed to have a positive effect on ASPA activity. This research will produce a library of evolved enzymes that carry randomised mutations, each will be screened to identify potential enzymes that offer enhanced activity. Work to date has focused on optimising ASPA expression and recovery. Enhanced ASPA proteins identified will be trialled via in-vivo testing using disease models in UMASS, with a viral vector (AAV) delivery system, developed by Prof. Gao and his research team. This animal study will identify the in-vivo efficacy of enhanced ASPA gene therapy solutions, informing future research and therapies towards treating Canavan patients in the most effective manner.
This project is funded by the Irish Research Council through the Goverment of Ireland Postgraduate Scholarship.
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Bachelors Degree, BSc in Applied Biology
01 Sep 2014 → 16 May 2017
Award Date: 03 Nov 2022
Bachelors Degree, BSc (Hons) in Molecular Biology with Biopharmaceutical Science
01 Sep 2017 → 15 May 2018
Award Date: 02 Nov 2018
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Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › peer-review
Research output: Contribution to conference › Poster