Discovery in genetic skin disease: the impact of high throughput genetic technologies.

ABSTRACT: The last decade has seen considerable advances in our understanding of the genetic basis of skin disease, as a consequence of high throughput sequencing technologies including next generation sequencing and whole exome sequencing. We have now determined the genes underlying several monogenic diseases, such as harlequin ichthyosis, Olmsted syndrome, and exfoliative ichthyosis, which have provided unique insights into the structure and function of the skin. In addition, through genome wide association studies we now have an understanding of how low penetrance variants contribute to inflammatory skin diseases such as psoriasis vulgaris and atopic dermatitis, and how they contribute to underlying pathophysiological disease processes. In this review we discuss strategies used to unravel the gen

SUBMITTER: Maruthappu T 

PROVIDER: S-EPMC4198921 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature