Sarah Louise Stenton, a former doctoral candidate from the PhD program Medical Life Science and Technology, received the prestigious Dimitris N. Chorafas Prize for her thesis “Mitochondrial disease: elucidating genetic aetiology by variant discovery, validation, and integration with clinical phenotype”.
Sarah Louise Stenton is a trained medical doctor who received her Bachelor of Medicine and Bachelor of Surgery at the University of Birmingham, followed by a Master’s in Clinical Sciences at the University of Cambridge. Last year, she finished her PhD program in Medical Life Science and Technology at the TUM School of Medicine, under the supervision of Prof. Thomas Meitinger and mentorship of Dr. Holger Prokisch, at the TUM Institute of Human Genetics with highest honors. In her outstanding dissertation “Mitochondrial disease: elucidating genetic aetiology by variant discovery, validation, and integration with clinical phenotype”, she focuses on the diagnosis of rare mitochondrial diseases. Her research not only comprises the discovery of a novel disease gene and novel pathogenic variants, but offers promising approaches to identify pathogenic variants underlying rare disease in more challenging to diagnose cases. Looking forward, her motivation is to close the diagnostic gap and end the “diagnostic odyssey” for individuals with rare genetic diseases and their families.
The Dimitris N. Chorafas foundation yearly awards outstanding young doctoral researchers from top ranking universities worldwide in selected fields in engineering, medicine and the natural sciences with the Dimitris N. Chorafas Prize. The prestigious prize rewards research characterized by its high potential for practical application and by the special significance attached to its aftermath. Each year, the Technical University of Munich (TUM) may nominate two exceptional doctoral graduates for the Prize. Each prize winner is awarded with 5,000 USD.