I joined Newcastle University in 2015 as a PhD Candidate in the Wellcome Trust Centre for Mitochondrial Research at the Centre for Life. Prior to this, I graduated from Imperial College London and the University of South Wales with MSc Human Molecular Genetics and Human Biology, respectively.
My primary research interests are the role of genetics and epigenetics in modulating disease phenotypes, particularly that which arises as a result of the complex interactions between the nuclear and mitochondrial genomes.
Investigating Genetic Risk Factors and Disease Mechanisms in Leber Hereditary Optic Neuropathy
Principal Investigators: Dr Patrick Yu-Wai-Man and Dr Gavin Hudson
Leber Hereditary Optic Neuropathy (LHON) is a debilitating disease which causes loss of retinal ganglion cells within the central retina and degeneration of the optic nerve. As such, patients develop acute blindness and quality of life is greatly affected.
Using fibroblasts kindly donated from LHON patients skin biopsies in my supervisor’s clinic, I have collected stocks of protein and DNA for further testing, such as quantification of mitochondrial copy number – which may play a role in disease development. Alongside this, I have also been using these fibroblasts for live cell analysis to characterise the LHON model within a primary culture.
In addition to this, I have started looking at the broader genetic landscape to try and account for the variable penetrance of the disease. This involves looking for both previously undetermined genetic variants and epigenetic modifications which may increase disease susceptibility.
Email: [email protected]
Sponsor/Funder: Joan Margaret Ferguson’s PhD Studentship, Jehangir and Dhun Dastur Bursary