The immune system is among the most complicated parts of the human body. We need an array of specialised white blood cells to fight infection and protect against cancer. To produce this complex system, each cell relies on detailed instructions in the form of DNA. Spelling mistakes in DNA can cause disease such as infection or inflammation, particularly in children but also increasingly recognised in adults.
To treat patients better and advise families we need to uncover the underlying genetic spelling mistakes. This used to be an almost impossible task, but with new techniques we can read the entire DNA sequence of individual patients. This is called their genome; every person’s genome is unique. We are still learning how to make sense of all the information it contains and especially how to pick out which genetic changes cause disease. In this proposal, scientists will focus on studying the genomes of patients with immune problems. We hope to learn more about which genes are important for immunity. Scientists will work with doctors to bring better DNA tests to the NHS so that families can be helped quicker. Eventually new treatments may become available but this generally takes a very long time.