PhD FRCP ath SRCS
Director of DNA Laboratory and Consultant Clinical Scientist
After completing a postgraduate MSc in 1986, specialising in Medical Genetics at the University of Glasgow, Steve Abbs commenced his career in clinical molecular genetics in the academic department of Medical and Molecular Genetics at Guy’s Hospital. His PhD focused on improving the accuracy of molecular genetic testing for Duchenne and Becker muscular dystrophy, through the development of novel laboratory methods and approaches which have since been applied in numerous clinical genetics laboratories worldwide.
He moved into the diagnostic DNA Laboratory at Guy’s Hospital in 1994, and has directed this laboratory since 1999. The laboratory has a long standing track record for developing, applying and publishing new and improved methods of testing, and the repertoire of tests and expertise within the laboratory has grown significantly over the years to include a number of specialized tests for which the laboratory has a national or international reputation.
In 2002-3 he chaired a Working Group of the Joint Committee for Medical Genetics, which resulted in a significant increase in the number of Genetic Laboratory Scientist training posts available in the UK, through Government investment via the 2003 Genetics White Paper.
Membership of national committees includes the Royal College of Pathologists Specialist Advisory Committee on Genetics; the Steering Committee of the UK Molecular Genetics National External Quality Assurance Scheme; and the UK Clinical Molecular Genetics Society Training Accreditation Board. National Assessor for Molecular Genetics Clinical Scientist Registration with the UK Health Professions Council. Member of the Editorial board of Prenatal Diagnosis journal.
Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F. (2008) Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol. 65(1):137-41. Ashton EA, Yau SC, Deans ZC, Abbs SJ. (2008) Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet, 16: 53-61.
Renwick PJ, Trussler JE, Ostad-Saffari E, Fassihi H, Black C, Braude P, Ogilvie CM, Abbs S. (2006) Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis. Reproductiove BioMedicine Online 13: 110-119. Ashton, E., Deans, Z., Yau, SC., Abbs S. (2005) A novel and rapid mutation screening approach facilitates prenatal diagnosis. Prenatal Diagnosis 25: 425-426.
Dhami, P., Coffey, A. J., Abbs, S., Vermeesch, J. R., Dumanski, J. P., Woodward, K. J., Andrews, R. M., Langford, C., Vetrie, D. (2005). Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome. Am.J.Hum.Genet 5: 750-762. Abbs, S. (1996). Prenatal diagnosis of Duchenne and Becker muscular dystrophy. Prenatal Diagnosis 16: 1187-1198.
