Professor Upadhyaya O.B. E obtained her PhD from Cardiff University, gained Fellowship of the Royal College of Pathologists, London and is a Distinguished Professor (Hon) of Medical genetics in the division of Cancer & Genetics at Cardiff University. She has made substantial contributions to the molecular understanding of a number of genetic conditions including Neurofibromatosis Type 1, Facioscapulohumeral muscular dystrophy and Hunters syndrome inter alia.
Professor Upadhaya has authored more than 200 peer-reviewed journals and co-edited 4 books. She won the Inspire Wales Award in 2010, the European Neurofibromatosis Association Award in 2013 and the St David Award for Innovation, Science and Technology in 2017.