During my undergraduate studies at the University of Cambridge, I benefited from being surrounded by a highly academic environment which piqued my interest in medical and biological research. Later, as a London paediatric trainee, I became very interested in metabolism and genetics. I then secured a post at Great Ormond Street Hospital where I decided to specialise in paediatric metabolic medicine and have since developed a special interest in mitochondrial disorders. My research interests include natural history studies, clinical guideline development, understanding pathophysiological mechanisms, development of preclinical models and gene therapy approaches for treating mitochondrial disorders. Recently I was appointed via UK-wide recruitment to a competitive academic clinical lectureship post at University College London which is a significant career milestone and has enabled me to undertake further research in parallel with my subspecialty training. My goal is to become a clinician scientist active in translational research geared at developing much-needed effective disease modifying therapies for primary mitochondrial disorders of diverse genetic causes.

I started my PhD 2 years ago and what I knew about mitochondria was that they were the cell’s powerhouse. During these 2 years I opened my eyes on so many roles and ways mitochondria are involved in the cells, out of cells and between cells. One of the proofs that mitochondria are central to the body’s function are mitochondrial diseases. They are extremely heterogeneous, appear at all ages and affect all organs. My team’s research goal is to understand how mutations in a mitochondrial gene (CHCHD10) can provoke tremendous changes in mitochondrial functions and lead to life threatening diseases such as neurodegenerative diseases or cardiomyopathies. Being able to dissect and understand the mechanisms that create these changes is the first step to find therapeutic strategies in diseases where no treatment is available currently.