The Genetics of Brain Structure and Multiple Sclerosis
Multiple sclerosis (MS) is a highly complex disease that is influenced by genes, the immune system and the environment. While many studies have collected and analysed a vast amount of genetic, clinical and environmental information relating to MS, our understanding of the causal pathways and the underlying susceptibility to disease outcomes is limited and primarily focusses on the immune/autoimmune component of this complex disease.
This project aims to identify genetic variants involved in the neurological component of the disease by first studying these processes in clinically 'normal' individuals. Individuals from the general population show a spectrum of variation in MS relevant cognitive and neuroanatomic traits including processing speed and working memory, and most individuals show some degree of measurable brain lesions or focal demyelination events identical to those measured in a disease context (although people who suffer from MS generally have a much greater lesion burden). The distribution of lesions in the general population is under strong genetic control.
We hypothesise that identifying the genetic variants influencing variation in these disease relevant traits in the normal population should offer us some insight into which genes or gene pathways may be involved in a disease setting like MS, where extreme deviations in the same measures are involved in disease susceptibility and progression.
This project is conducted in collaboration with the Genetics of Brain Structure and Function (GOBS) study; a large USA-based genetic study of variation in a range of neuroanatomic and cognitive measures amongst 1,500 people from the general population.
- Dr Jac Charlesworth
- Professor Bruce Taylor