For every gene, there are several different versions that someone could have, which we call variants (also known as mutations). Many variants do not change how the gene works, but some do. Over the past couple of decades, science has discovered several genes where, if someone inherits a certain variant in a gene, that person is more likely to develop a particular disease, e.g. BRCA1 variants and breast cancer . Our group is interesting in finding more gene variants that can make someone more likely to develop various health-related problems. Our areas of interest are broad, from blood disorders, to rare disease, to unexplained stillbirth, but all of our work centres around what gene variants make someone more likely to have these problems. By using big databases such as the UK Biobank that contain both genetic and health information, we can look for new links between health-related problems and certain gene variants.
Discovering new gene variants that contribute to a disease can have several benefits:
– Knowing which genes contribute to a disease can help us eventually develop new medicines to treat them by telling us what to target.
– If someone knows they have a gene variant that makes them more likely to develop a certain disease, they can be monitored by their doctor more regularly to make sure the disease is caught and treated early.
– If one or both members of a couple know they have a gene variant that can cause disease or stillbirth, they can use family planning technology like IVF to help them have a healthy baby.
We would like to use the UK Biobank in an ongoing capacity (rolling 3-year period), as we will continuously use the UK Biobank data to assess new variants we discover from other sources for links to diseases.