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.
A novel role for CRIM1 in the corneal response to UV and pterygium development.
Maurizi E. et al, (2018), Exp Eye Res
From Genotype to Phenotype: Clinical Assessment and Participant Perspective of a Secondary Genomic Finding Associated with Long QT Syndrome
Mackley M. et al, (2018), Circulation: Genomic and Precision Medicine
New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease.
Lenglet M. et al, (2018), Blood
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Pagnamenta AT. et al, (2018), Hum Mutat, 39, 822 - 826
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.
Klintman J. et al, (2018), Br J Haematol