Rachel Knowles

Dr. Rachel Knowles is a Clinical Principal Research Fellow in Paediatric Epidemiology at the Great Ormond Street Institute of Child Health, University College London (UCL). She specializes in newborn screening, rare disease surveillance, and public health research, contributing to advancements in pediatric epidemiology and healthcare policy.

Dr. Knowles earned her medical degree from Edinburgh University in 1991, followed by vocational training in General Practice and Community Paediatrics in Edinburgh and London. She completed her specialist training in Public Health Medicine in London in 2004 and holds a Masters in Medical Anthropology from Brunel University (1998) and a Masters in Public Health from the London School of Hygiene and Tropical Medicine (2004). Her PhD at UCL focused on survival modeling for children born with congenital heart defects.

She has played a key role in pediatric rare disease surveillance, serving as Medical Adviser to the British Paediatric Surveillance Unit (BPSU) Scientific Committee from 2003 to 2016. She contributed to the development of BPSU’s surveillance methodology, leading two national rare disease studies, including the congenital hypothyroidism surveillance study, conducted in collaboration with paediatric endocrinologists, epidemiologists, and the NHS Newborn Bloodspot Screening Programme.

Dr. Knowles is an Honorary Consultant at NHS England, where she advises on antenatal and newborn screening programs. She chairs the Antenatal and Newborn Screening Research Advisory Committee at NHS England and is actively involved in clinical research policy, ethics, and governance at the Medical Research Council (MRC).

Beyond her research, Dr. Knowles is a member of the Confidentiality Advisory Group (CAG), advising the Health Research Authority (HRA) and Secretary of State on health data research ethics

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