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.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH. et al, (2019), Am J Hum Genet
Sequencing of human genomes with nanopore technology.
Bowden R. et al, (2019), Nature communications, 10, 1869 - 1869
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Bayat A. et al, (2019), Genet Med
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT. et al, (2019), Clin Genet
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J. et al, (2019), Genet Med