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Sarah Burley


Postgraduate Student

Motor neuron disease is the third most common neurodegenerative disease. Amyotrophic lateral sclerosis (ALS), a form of motor neuron disease, presents in adulthood with the loss of upper and lower motor neurons. A large hexanucleotide repeat expansion in the C9ORF72 gene has been linked to a significant proportion of both familial and sporadic cases of ALS.

I aim to explore C9ORF72 and the reason for motor neuron degeneration.One avenue of exploration is the use of induced pluripotent stem (iPS) cells. The differentiation of motor neurons from iPS cells derived from patients with the C9ORF72 expansion provides a model allowing exploration of the downstream effects of C9ORF72.

I aim to further elucidate disease pathophysiology to allow future development of therapeutic molecules against disease progression or to provide symptomatic relief.


 

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Background

I graduated from the University of Bath in 2014 obtaining a first class BSc(Hons) in Biochemisty.  During my degree I spent a year in industry working as a Junior scientist at the Stem Cell Institute, University of Minnesota USA attempting to differentiate murine iPS cells to skeletal muscle using soluble factors.