ISSN: 2161-0665
Kevin Mills
Clinical & Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK
Dr. Kevin’s main interest is understanding the disease mechanisms underlying rare inborn errors of metabolism. His group’s focus is on patient-driven, translational research which aims to establish rapid, sensitive methods to study, diagnose and monitor the treatment of patients from GOSH and the National Hospital for Neurology. His laboratory is unique in that it can develop any diagnostic marker found in the ‘omic’ wings of the facility into rapid, multiplexed, diagnostic medical tests in the targeted mass spectrometry section. His group was responsible for the development of a new, quicker and gold standard test for the diagnosis of Fabry disease. This assay is used today both nationally and internationally for screening millions of patients for Fabry disease.