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.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V. et al, (2023), American journal of human genetics
Open science discovery of potent noncovalent SARS-CoV-2 main protease inhibitors.
Boby ML. et al, (2023), Science (New York, N.Y.), 382
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome medicine, 15
RAS-pathway mutations are common in patients with ruxolitinib refractory/intolerant myelofibrosis: molecular analysis of the PAC203 cohort.
O'Sullivan JM. et al, (2023), Leukemia
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL. et al, (2023), Genetics in medicine : official journal of the American College of Medical Genetics, 25