Dr Rachel Knowles is a Clinical Research Fellow in Paediatric Epidemiology based at the Great Ormond Street Institute of Child Health, University College London, and Honorary Consultant at Public Health England where she supports the antenatal and newborn screening programme. Rachel was Medical Adviser to the British Paediatric Surveillance Unit Scientific Committee 2003-2016, contributing to the development of the Unit’s surveillance methodology. She has led two national paediatric rare disease surveillance studies, including the congenital hypothyroidism surveillance study undertaken in collaboration with paediatric endocrinologists, epidemiologists and the NHS Newborn Bloodspot Screening programme.