Understanding how changes in genes cause disease is a fundamental objective of researchers at institutes such as the Wellcome Centre for Human Genetics. However, before doctors can use this information for the benefit of patients, further work is required. We need to understand if the research discoveries are indeed useful for the diagnosis or treatment of medical conditions and we need to explore how new technologies can be adapted for routine use in the NHS. Genetics research most frequently results in new genetic tests for diagnosis of various conditions, but it can also change the way in which doctors treat disease or to the development of new pharmaceutical drugs.
The Oxford Biomedical Research Centre Genetics Theme, which is funded by the UK’s Department of Health, aims to bridge this gap between genetics research communities and doctors and healthcare professionals in the NHS. It is part of a broader programme being conducted by the Oxford BRC covering many disease areas including heart disease, cancer, stroke. The Genetics Theme focuses in particular on developing new technologies for the NHS. These include methods for sequencing the human genome. Although on the horizon, the cost of sequencing an individual’s complete DNA sequence is currently too high but the prospect of reading sections of it which we know relate to specific diseases is real – and may help us to diagnose and treat these diseases more effectively. We are also interested in new technologies that enable us to tell whether people have subtle changes to their DNA (mutations) or the amount present (copy number changes).
Our programme currently involves projects in heart disease, leukaemia, cancer, brain malformations and neurodegenerative conditions. We frequently seek participants for our studies. One active area of recruitment is for our brain malformations study.
The Bartter-Gitelman Spectrum: Fifty Year Follow-up with Revision of Diagnosis after Whole Genome Sequencing
Stevenson M. et al, (2022), Journal of the Endocrine Society
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C. et al, (2022), American journal of human genetics
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants in whole-genome sequencing
Giacopuzzi E. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 496 - 496
SCUBE3 loss-of-function causes a recognizable developmental disorder due to defective bone morphogenetic protein (BMP) signaling
Niceta M. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 362 - 363
The first human importin-beta-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Van Gucht I. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 5 - 6