Tel: 020 7188 7188 ext 51424
Area of expertise: molecular genetics
Gail Norbury undertook her undergraduate degree in Biochemistry at the University of Oxford. She subsequently trained and worked for 5 years as a Clinical Biochemist in South West Thames before moving to the Oxford Radcliffe Hospital in 1987 to establish a molecular genetics diagnostic laboratory. She is an HCPC registered Clinical Scientist and Fellow of the Royal College of Pathologists. Gail became head of the Regional Molecular Genetics Service at Great Ormond Street Hospital in 2001 and moved to her current position at the Regional Genetics Service at Guy’s & St Thomas’ Hospital in 2009.
- UK GTN Laboratory Membership and Audit Working Group
- Association for Clinical Genetics Science Quality Subcommittee and Activity audit Lead
- Pathology Informatics Group, Royal College of Pathologists
- Examiner, Royal College of Pathologists (FRCPath; 2001-)
- Genetics topic specific expert for the NICE committee on developing guidance on the organisation of diagnostics services
- Standing Committee member of NICE Diagnostic Assessment Programme
- National Laboratory Medicine Catalogue Discipline Lead for Genetics
- Royal College of Pathologists Special Advisory Committee Member for Genetics & Reproductive Science (Chair)
- Rare Disease Advisory Group- NHS Commissioning Board (RCPath representative),
- Academy of Health Care Science Professional Working Group member for Genetics
- Reliable and non-Invasive Prenatal Diagnosis (RAPID) Advisory Group Member
- Economic analysis of clinical exome sequencing for diagnosis of genetic disorders
- Lynch syndrome
- Familial hypercholesterolaemia
- Tay Sachs disease
- Non invasive prenatal diagnosis
- Measures of activity and costing of genetic tests
- Baker Award for research paper (Correlation between prolactin and cotinine levels in subfertile women)
- Analysis of free fetal DNA in maternal plasma for prenatal diagnosis (2002- ); EU SAFE grant (2003; European collaboration); ICH SDI grant (2004; £24.8k, Principal Investigator). NIHR grant (2008; co-applicant) Non-Invasive Prenatal Diagnosis for single gene disorders. UKCRN Study (ref 5826)
- Utility of DNA-based testing for familial hypercholesterolaemia (2004 with extension 2008; £97k, Dept Health) Gail Norbury & Prof Steve Humphries.
- Development and optimisation of methods to detect germline mutations and microsatellite instability in HNPCC families Supported by NHS R&D grant, RCC56310 £43,241. Lead investigators Dr I Tomlinson, Gail Norbury (1998-2000).