Dr Thiloka Ratnaike

I am currently working as a Paediatric neurology registrar at the Bristol Royal Hospital for Children, managing children with complex and rare conditions. I am proud to be a rare disease advocate and have championed this as a Medics4RareDiseases Clinical Ambassador in 2023-2024. Rare disease diagnostics have formed a large part of my academic work. I am a researcher with the University of Bristol, mentored and supervised by Professors Sam Amin and James Hodge, working on scalable workflows for structured phenotyping. I am also completing academic projects I commenced while employed as a clinical lecturer by the University of Cambridge, in my ongoing honorary researcher role. This includes tackling issues around access to research opportunities in diverse and underserved communities; investigating the outcomes of genetic testing in children with cerebral palsy; evaluating a cohort of children with DEE-SWAS; and the investigation of rare disease cohorts for mitochondrial diseases. A long-serving interest of mine, since undertaking my PhD (2009-2012) in the Wellcome Trust Centre for Mitochondrial Research at Newcastle, has been to solve a problem that plagues Mitochondrial Medicine – the difficulty in assigning genotype-phenotype associations. My work has allowed me to establish a database that can be directly applied to genetic variant prioritisation to help diagnose patients with mitochondrial disease. I am also the founder of the Child Health East of England Research Initiative– a RCPCH-backed trainee-led research network, which supports the propagation of quality improvement and research activity within the East of England.