Making the invisible visible

Abstract

In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.

The benefits of exploiting rare genetic disorders to better understand human health and disease

“…I the re ie e titled Maki g the i isi le isi le Prof. Maurice van Steensel then describes how genetic skin diseases allows for the study of human biology on the canvas of the skin [8]. Through genetic analysis and research of skin disorders much progress has been made in our basic understanding of skin pigmentation, a topic covered in this review.…”