Kate Sergeant

Kate Sergeant is a Principal Clinical Scientist in the mitochondrial diagnostics team at the Oxford Genetics Laboratories based at the Churchill Hospital. She moved to Oxford in 2013 and was appointed to a senior position in the mitochondrial team in January 2016. The main focus of her role is analysis and interpretation of genomic data and she enjoys working closely with clinical colleagues to help diagnose patients with mitochondrial disease.

Kate started her career in the NHS as a trainee Clinical Scientist in Newcastle in 2006. She became a registered Clinical Scientist in 2011 and was awarded Fellowship of the Royal College of Pathologists in 2022. Before starting work in the NHS, she graduated with a degree in Genetics from Newcastle University and then studied for a PhD at the Institute of Human Genetics in Newcastle. 

Mitochondrial disorders group - Genetics Laboratory Team

The presentation will provide an outline of the principles and challenges of diagnosing mitochondrial disease. It will cover the background of the complicated genetics of mitochondrial disorders, including nuclear and mitochondrial inheritance patterns and concepts such as heteroplasmy. The benefits of a multidisciplinary approach and the value of different investigations will be discussed. The main focus will be the genetic analysis for diagnosis of mitochondrial disease and the presentation will describe the different techniques available and the options for different testing strategies depending on the clinical context and the sample types available. The presentation will emphasise the challenges encountered with genomic analysis, especially with the complexities of mitochondrial disorders. The themes in the presentation will be consolidated with example cases highlighting some of the uncertainties that may be encountered and the additional work that may be required to achieve a genetic diagnosis of mitochondrial disease.