Functional and single-cell genomic characterisation of atopic dermatitis endotypes
Principal Investigators: Professor Muzlifah Haniffa and Professor Nick J Reynolds
We are combining pioneering single cell sequencing technology with our clinical expertise and well characterised cohorts of atopic dermatitis (eczema) in adults to gain novel insights into disease development. Our study will inform the development of prognostic and therapeutic biomarkers for disease stratification as well as providing insights into the molecular drivers linking atopic dermatitis with other common conditions.
Atopic dermatitis (eczema) is a chronic, itchy, disabling skin disease associated with skin barrier problems and inflammation. Typically, eczema starts in childhood. Although some patients improve, eczema often persists and is the commonest skin condition affecting adults. The genetics underlying eczema differs from person to person. Currently we are not able to predict whether a patient’s eczema will resolve, get worse or predispose to other conditions such as hay-fever or asthma. We also have no way of knowing which treatment will work best for which patient; and so, treatments are prescribed by trial and error, which is not ideal for the patient and is wasteful of NHS resource. Moreover, recent evidence indicates that sub-groups of eczema patients may be identified by molecular markers (biomarkers).
Developments in technology and gene sequencing mean that we can now sequence all the molecules that code for proteins within individual cells in the skin or blood at reasonable cost. We will combine this information with the genetic makeup of individuals to develop markers of these different subgroups. Such complex data requires high-level computer analysis combined with biologic and clinical interpretation. From this complex information, we will distil the key elements and develop more simple tests that can used on a larger number of patient samples.
One of the key outcome of the project will include biomarkers that can be developed into clinical tests within the NHS that predict individual patient risk or developing further allergic diseases and their response to biologic drugs. Such information may allow us to ultimately prevent the development of severe disease or associated conditions by early intervention, bringing significant benefits for patients (improved treatment outcome and quality of life) and society (reduced costs).