Kings College London

St Thomas' Hospital

Dr. Stone is part of the TWINSUK research unit at Kings College London, St. Thomas' Hospital. Her research focuses on disorders of the back and health and wellbeing.

TwinsUK was set up by Professor Tim Spector, Consultant Rheumatologist in 1992 using grant funding from the Wellcome Trust and Arthritis Research Campaign (ARUK) and it is currently based at the Department of Twin Research, King’s College London. Its initial main aim was to investigate the incidence of osteoporosis and other rheumatologic diseases in a small cohort of several hundred monozygotic (identical) twins. Since then the registry has expanded in number and areas of research covered. It currently comprises a total of 12,000 identical and non-identical twins from right across the UK with ages between sixteen and ninety eight. Female twins predominate and overall the mean age is in the mid fifties. It is now the UK’s only adult twin registry and the most clinically detailed in the world. The breadth of research the cohort has supported has expanded over the years to cover the genetics of a wide range of common complex traits, and the TwinsUK cohort is now probably the most genotyped and phenotyped in the world. Recently genome-wide association studies have identified over 400 novel gene loci in over 30 disease areas including osteoporosis, osteoarthritis, melanoma, baldness, and telomere length from TwinsUK data. Current research covers the genetics of metabolic syndrome and cardiovascular disease, musculoskeletal system, ageing and sight. We currently have programmes of research examining rare variants via whole-genome next generation sequencing (UK10K project), gene expression in multiple tissues (MuTher study), Epigenetics (EpiTwin project) and metabolomics, all to continue the study of how genes and environment interact to cause common age-related diseases, and to examine “healthy ageing”.

The data collected from the TwinsUK cohort has enabled multiple collaborations with over 60 groups worldwide and the publication of 600 research papers. The database has an extensive range of phenotypes obtained from twins many of whom have attended the Department for clinical visits over the last eighteen years. The TwinsUK cohort is increasingly used as a resource by other researchers who are encouraged to request data from the easily-searchable database online.

The main funding bodies currently supporting the department are the Wellcome Trust, European Union (EU), and National Institute for Health Research (NIHR). The DTR has also funding from many other bodies, including pharmaceutical companies.

Dr Stone is researching the genetic and environmental influences on back pain and spine curvature.