Investigating the genetic causes of multiple sclerosis

Multiple sclerosis (MS) is a disease in which the immune system mistakenly attacks the brain and spinal cord, leading to symptoms such as fatigue, vision problems, and difficulties with movement or cognition. Although current treatments can reduce relapses and slow progression, there is no cure, and many individuals eventually develop more severe forms of the disease.

Research has shown that MS is influenced by a large number of genetic differences (also known as variants) that are commonly found in people living with MS but are much rarer in people who do not have MS. Most of these genetic changes do not directly affect genes themselves. Instead, they occur in parts of our DNA that control when and where genes are switched on, particularly in immune cells like B cells. Understanding the consequences of these genetic variants is very challenging, especially because each one might only have a small effect on its own. Even more difficult is the question of how combinations of these variants might interact to cause disease, since experimental tools to study these combined effects have not yet been developed.

In this study, Dr King and his team aim to test how over 100 MS-associated genetic variants affect gene activity and immune cell function. They will also explore how combinations of risk variants influence cell behaviour, using innovative methods designed to overcome longstanding technical barriers. By mapping how MS-associated genetic differences – both individually and in combination – change B cell function, this project will uncover key pathways that contribute to MS. These insights will lay a critical foundation for developing future therapies that target the underlying genetic factors involved in the disease, offering new hope for more effective and personalised treatment strategies.