I am the Programme Manager for the Deciphering Developmental Disorders (DDD) Study, a collaboration between the Wellcome Trust Sanger Institute and the 24 regional genetics services across the UK and Ireland. I oversee all aspects of the study, and am particularly involved with clinical anlaysis and reporting of plausibly diagnostic results to clinical teams. As a result of this work, I am also currently seconded part-time to Genomics England, where I am scientific lead for validation and feedback of clinical results from the 100,000 genome project.
Prior to joining the WTSI, I was Head of Science at the Foundation for Genomics and Population Health (PHG), a health policy think-tank. Amongst other things, I was responsible for writing a Report detailing how next generation sequencing could be used in the NHS.
My PhD was in protein biophysics at the University of Cambridge and I retain a keen interest in understanding the effect of mutations on protein structure.
Programme Manager, UK Deciphering Delopmental Disorders Study
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Lancet (London, England) 2015;385;9975;1305-14
Large-scale discovery of novel genetic causes of developmental disorders.
Potential research participants support the return of raw sequence data.
Journal of medical genetics 2015;52;8;571-4
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.
European journal of human genetics : EJHG 2016;24;1;21-9
Policy challenges of clinical genome sequencing.
BMJ (Clinical research ed.) 2013;347;f6845
No expectation to share incidental findings in genomic research.
Lancet (London, England) 2015;385;9975;1289-90
Informatics and clinical genome sequencing: opening the black box.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15;3;165-71
Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis.
BMC research notes 2012;5;476
Review of massively parallel DNA sequencing technologies.
The HUGO journal 2011;5;1-4;1-12
The Deciphering Developmental Disorders (DDD) study.
Developmental medicine and child neurology 2011;53;8;702-3
Realising the benefits of genetics for health.
Lancet (London, England) 2010;376;9750;1370-1
The importance of sequence diversity in the aggregation and evolution of proteins.