Approved Research

Exploring the genetic architecture of complex diseases for application in personalised medicine

Lay summary

Genetic variation amongst the 3 billion nucleotide bases of the human genome are commonplace and give rise to many different features seen in humans such as differences in height or eye colour. Additionally, many genetic variants have also been associated with occurrence of common diseases found in the population. Whilst it is clear that genetic variants can contribute to disease, it is unclear how they do this at the present time. Current analysis tools exploring the human genome have focused on analysing these genetic variants one at a time rather than a specific combination of variants an individual may carry. Thus this  provides only a limited view of how these variants may influence disease. We have developed a computer program that allows us to identify combinations (signatures) of these genetic variants that provides another way of looking at how genetic variants are associated with either increased or decreased risk of disease. We wish to explore how common these signatures are in disease and how other risk factors such as the environment, age or sex influence these genetic signatures and modify disease. This information will help identify people most likely or least likely to develop a particular disease. We will firstly undertake this analysis in the common eye disease of Age related macular degeneration (AMD) and the immune related Coeliac disease . Other common eye diseases including glaucoma and diabetic retinopathy as well as neurodegenerative (Alzheimer's) and immune related diseases (Chronic fatigue syndrome) will then be investigated. We anticipate that findings will be made for AMD and Coeliac disease within a year whereas the other diseases will be made within 3 years.