I am a South African DPhil student in the Department of Physiology, Anatomy and Genetics. My research revolves around developing permanent therapeutic strategies for fatal, hereditary neuromuscular diseases to which there are currently no effective treatments or cures available. Neuromuscular disorders are highly debilitating, and often fatal, incurable diseases which affect an estimated 160 people per 100,000 population worldwide. As genetic screening techniques have vastly improved over the past decade, the molecular mechanisms for targeted treatment of specific types of these disorders are becoming increasingly known. The specific diseases on which I will focus are Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). While the genetic basis underlying these diseases is different, both are amenable to genetic engineering which has the potential to correct the mutations permanently. One of my strategies will be to employ a novel and exciting gene editing technology called CRISPR/Cas9 to target the site of these genetic mutations with high specificity and correct them first in cell models and thereafter in mice if successful. Another aim of my project is to understand the pathology of muscle cells and to identify molecules that could be used as a benchmark for the disease progression and treatment success. Together this will contribute towards research into uncovering cures for these devastating diseases and highlight the areas within gene editing that are successful and those that require further development.
Besides my research I have been a part of the Exeter College hockey team where I have enjoyed meeting new people from the JCR as well as the MCR. I attend many of the exchange dinners and events with other colleges as well as the bops that happen each term and I have been doing yoga at Exeter House twice a week. I have attended some of the Rector’s seminars and generally enjoy spending time in the fellow’s garden when the weather is good. I have been working in the Undercroft Bar since January and have thoroughly enjoyed this opportunity to interact with the wider Exeter College community. I also enjoy the weekly welfare tea events and find this a wonderful way to relax and unwind after a long week. In the coming year I would like to become more involved in the MCR committee. This is the first time that I am studying outside of my home country and thus far it has been the most wonderful experience, made especially enjoyable by the Exeter College community.
As the recipient of a scholarship, I would like to thank the donors for the incredible support that I have been afforded, without which I would not be able to undertake my DPhil at the University of Oxford. It has not only allowed me to pursue my passion but also to network with people who will undoubtedly shape my career and future in a positive manner.
