B2625 - Investigation of aetiological mechanisms of atopic dermatitis from association to causation through data integration - 24/05/2016
Atopic dermatitis (eczema), is a common chronic skin disease affecting up to 20% of the
population. I recently led an international study of 377,000 individuals which identified several
genetic variants associated with the disease. The challenge now is to understand how these
genetic variants work to cause eczema.
Along the pathway from genetic mutation to disease, there are many steps that are not well
understood. For example, though we have identified a mutation that seems to be important, in
many cases the actual gene (and protein) affected by the mutation is not known, the molecular
changes that occur within cells have not been determined, and even the cell type or tissue affected
is not well established. In this fellowship I will use a wide range of biological data from thousands of
individuals (including ALSPAC) to investigate these questions and to better understand genetic risk of eczema. In addition to studying eczema, I will also investigate the relationship between eczema and other
related conditions, such as asthma, allergy and other immune diseases.
This work will help us understand the mechanisms of eczema, which in turn will enable better
management of symptoms, and ultimately the design of more effective treatments.