In a recent WCMR Science Seminar talk, we heard from Rory Tinker, a junior doctor and scientist at the start of his career in both fields. Read on to find out more about Rory’s research project in the WCMR.

My clinical job is based at the Royal Victoria Infirmary where I am currently supporting the response to the Covid-19 pandemic. In addition to my clinical responsibilities, I am involved in research at the Wellcome Centre for Mitochondrial Research where my principle interest is rare mitochondrial disorders affecting children. Mitochondria are the tiny components in cells that produce the energy we need to live. People can inherit mutations in the genetic code for their mitochondria which causes disease in children. To achieve a better understanding of these rare disorders my research involves investigating the medical notes of patients to identify any patterns or trends that could shine new light on these conditions. Due to the rarity of mitochondrial disease, I collaborate with scientists in Austria and the US.

In addition to this role, I have recently undertaken a literature review exploring how mitochondrial disorders are treated which has been accepted for publication in a medical journal. The Centre offers a great place to train and is clearly leading the international effort to improve the lives of children with mitochondria disease. On a personal note, the experience I have gained here will be invaluable to help me in my ambition to become a clinical geneticist specialising in rare genetic disorders affecting children.