UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health

Dr Rachel Knowles

Dr Rachel Knowles

Clinical Research Fellow

Population, Policy & Practice Dept

UCL GOS Institute of Child Health

Joined UCL
1st Mar 2003

Research summary

Rachel's research is concerned with the epidemiology of rare disease and congenital conditions with a focus on the childhood outcomes of disorders which have their origins in early life. Her interests include population surveillance for paediatric rare disorders, newborn screening for congenital disorders, and the impact on children's survival and quality of life of living with chronic conditions such as congenital heart defects, congenital adrenal hyperplasia, primary congenital hypothyroidism, severe microcephaly and childhood hearing impairment.

Rachel has been involved in cross-disciplinary collaborations with paediatric clinical specialists, health economists and statisticians. Her work involves applying a range of epidemiological and qualitative methodologies, including analysis of linked routine data, to explore the role of preventive screening and clinical management in achieving health gain for children and their families.

She has a keen interest in research ethics and governance, particularly in relation to the ethical management of patient data in research.

Teaching summary

Rachel contributes to modules within the MSc in Paediatrics and Child Health and BSc in Population Health Sciences at UCL, and is a supervisor and examiner for PhD and Masters students. She is currently supervising one PhD and one MD student.

Rachel is accredited as an Educational Supervisor for medical trainees.


University College London
Doctorate, Doctor of Philosophy | 2010
Other Postgraduate qualification (including professional), Fellowship | 2004
London School of Hygiene and Tropical Medicine
Other higher degree, Master of Science | 2000
Brunel University
Other higher degree, Master of Science | 1998
Royal College of General Practioners
Doctorate, Member of the Royal College of General Practioners | 1995
University of Edinburgh
Other Postgraduate qualification (including professional), Diploma of Child Health | 1994
University of Edinburgh
Doctorate, Bachelor of Medicine, Bachelor of Surgery | 1991


Dr Rachel Knowles qualified in Medicine at Edinburgh University in 1991, undertook vocational training in General Practice and Community Paediatrics in Edinburgh and London in 1998, and completed her specialist training in Public Health Medicine in London in 2004. She obtained a Masters in Medical Anthropology (Brunel University) in 1998 and Masters in Public Health (LSHTM) in 2004.  Her PhD thesis, completed at UCL, modelled survival for a UK-wide cohort of children born with congenital heart defects.

Rachel was appointed Honorary Consultant at Public Health England (PHE), where she is Clinical Advisor to Newborn Blood Spot Screening programme. She is Chair of the Antenatal and Newborn Screening Research Advisory Committee at PHE and is a member of the Expert Scientific and Clinical Advisory Panel for the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).

Rachel is employed part-time by the Medical Research Council (MRC) as Programme Manager for Clinical Sciences. As an MRC representative, she sits on the steering committees for Understanding Patient Data and the Global Forum for Bioethics Research.

Rachel represents UCL Great Ormond Street Institute of Child Health on the Governance Board of the British Paediatric Surveillance Unit (BPSU) and was formerly Senior Medical Adviser to the BPSU (2003-2016). She was a member of the NICE Guideline Development Group for Antenatal Care (2006-2008) and contributed to the Evidence Update.

Since 2015, Rachel has been a member of the Confidentiality Advisory Group (CAG) which advises the Health Research Authority (HRA) and Secretary of State on Section 251 support. Prior to this, she was a member of the London-Bloomsbury Research Ethics Committee.