Researcher: Teng Heng and Hilary Martin
Institution: Welcome Sanger Institute
The immune system is formed by a complex network of cells and proteins that defend the body against infection and cancer. Dysregulation of immune cell function has broad implications and can lead to susceptibility to infections, severe immunodeficiencies or autoimmune diseases, such as rheumatoid arthritis or asthma.
We all carry millions of changes in our DNA, so called genetic variants, which determine a whole range of human traits, from our looks through to how our body responds to external pathogens. In this project we aim to understand how DNA changes in selected genes linked to the immune system affect immune cell function. To do so, we aim to recruit individuals who carry genetic variants in selected genes, collect blood samples and isolate immune cells to then characterise the effects of these variants on cell function. We will use the newest genomic technology that enables us to look at the activity of genes (including the genes with the genetic variants of interest) at a single cell resolution.
To date, the majority of studies have focused on the effects of genetic variation in European populations. However, findings from such studies may not apply well to other ancestries. Studying gene differences in the South Asian population allows us to uncover the gene differences specific to this population, and could inform new disease mechanisms and more effective drug therapies.
