Deciphering the Genetics of Severe Atopic Dermatitis

The purpose of this Agreement is to promote the increase of useful knowledge through research relating to a research project, focusing in the genetics of atopic dermatitis. Atopic Dermatitis (AD) is a common chronic disease, which significantly affects patients’ life. Until recently, the treatment of severe AD was limited and included mainly broad-spectrum immunosuppressive drugs. However, targeted therapies have more recently become available, underscoring the importance of revealing hidden molecular pathways. As a family history of atopy has been recognized to increase the risk of AD, potentially related gene loci have been sought and several susceptibility gene loci have been recognized. With the availability of advanced genetic tools, a more direct approach of finding mutations in genes encoding components of the epidermal barrier and/or immune system involved in AD might expand our knowledge regarding the contribution of genetics to this multifactorial disease. In this study, we aim to decipher rare genetic variants in a cohort of 60 patients with severe atopic dermatitis through performing whole exome sequencing. Candidate genes will be further tested by functional studies to define the impact of these variants and investigation of the mechanism(s) by which these alterations confer a risk of severe AD.