Dr Stephen Abbs

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Biography

Dr Abbs is Director of the Regional NHS Clinical Genetics Laboratory in Cambridge. He is a Consultant Clinical Scientist, with over 25 years experience of working in the diagnostic genetics laboratories in Cambridge and previously at Guy’s Hospital, London. His main aim in providing a clinical genetic laboratory service is to provide high quality, cost effective tests for the benefit of as many patients as possible. This has recently been achieved through introducing the first clinical exome sequencing service in the UK, which offers tests for hundreds of different genetic disorders which previously could not be tested for in the UK.

Qualifications:

FRCPath (Molecular Genetics), Royal College of Pathologists

PhD, University of London

MSc (Med Sci) Medical Genetics, University of Glasgow

BSc (Hons), NE London Polytechnic

Research

Application of Next Generation Sequencing to improve diagnostic yield and access to genetic diagnosis for patients with inherited rare disorders. Actively involved in promoting, developing and running External Quality Assessment Schemes to improve the quality and consistency of clinical genetic diagnostic laboratory testing.

Selected Publications

JOURNAL ARTICLES

Schon K, Spasic-Boskovic O, Brugger K, Graves TD, Abbs S, Park SM, Ambegaonkar G, Armstrong R. Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. Neurogenetics. 2017 Jan;18(1):49-55. doi: 10.1007/s10048-016-0504-2. Epub 2017 Jan 6 , 2017
Hague J, Delon I, Brugger K, Martin H, Abbs S, Park SM. Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation. Am J Med Genet A. 2016 Jun;170(6):1608-12. doi: 10.1002/ajmg.a.37631. Epub 2016 Mar 21 , 2016
Plaskocinska I., Shipman, H., Drummond, J., Thompson, E., Buchanan, V., Newcombe,B., Hodgkin,C., Barter,E., Ridley,P., Ng,R., Miller,S., Dann,A., Licence,V., Webb,H., Tan, LT., Daly,M., Ayers,S., Rufford, B., Earl,H., Parkinson,C., Duncan,T., Jimenez-Linan,M., Sagoo,GS., Abbs,S., Hulbert-Williams,N., Pharoah,P., Crawford,R., Brenton,JD., Tischkowitz,M. New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study. J Med Genet. 2016; 53(10): 655–661 , 2016
Luchetti,A, Walsh,D, Rodger,F., Clark,F., Martin,T., Irving,R., Sanna,M., Yao,M., Robledo,M.,. Neumann,HPH.,. Woodward,ER., Latif,F., Abbs,S., Martin,H., and.Maher, ER. Profiling of somatic mutations in Phaeochromocytoma and Paraganglioma by targeted next generation sequencing analysis. Intl J Endocrinology. 2015: Article ID 138573 , 2015 (UNKNOWN)
Malignant peripheral nerve sheath tumor in cowden syndrome: a first report. Taylor A, Delon I, Allinson K, Trotman J, Liu H, Abbs S, Tischkowitz M. J Neuropathol Exp Neurol. 2015 Apr;74(4):288-92. doi: 10.1097/NEN.0000000000000178 , 2015 (UNKNOWN)

Memberships

Health and Care Professions Council, Clinical Scientist

Member of Association for Clinical Genetic Science

Lead Clinical Scientist, NHS England Genomic Clinical Interpretation Partnership for Validation and Feedback

Chair of Special Advisory Group for Molecular Genetics External Quality Assessment, UKNEQAS

Chair of Special Advisory Group for Next Generation Sequencing External Quality Assessment, UKNEQAS / EMQN

Chair of UK National External Quality Assessment Scheme Steering Committee for Molecular Genetics

British Society for Genetic Medicine

European Society for Genetics

Assessor for UK Academy for Healthcare Scientists

Institute of Continuing Education
Madingley Hall
Madingley
Cambridge
CB23 8AQ

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