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Approved Research

The genetic landscape of chronic pruritic dermatoses

Principal Investigator: Dr Shawn Kwatra
Approved Research ID: 67988
Approval date: November 9th 2021

Lay summary

Itch is a common symptom of many skin diseases and causes significant distress to patients. Patients with chronic itchy skin disease often report sleep difficulties, depressed mood, and an overall lower quality of life. Examples of such diseases include eczema, psoriasis, and allergic contact dermatitis. This is compounded by a lack of effective treatment options for itch, because the biology of itchy skin diseases is poorly understood.

In order to gain a better understanding of these diseases, we will examine the genetic data of patients with certain itchy skin diseases. We aim to discover new mutations that may be linked to these diseases. This is accomplished by comparing the genetic data of patients with itchy skin disease to genetic data of the UK population without itchy skin disease, in order to identify specific DNA mutations associated with the disease. These mutations can be then used to generate risk scores that yield the likelihood that a patient will develop itchy skin disease. Additionally, association of mutations with specific patient characteristics can also be found using demographic, questionnaire, and laboratory data.

Also, mutations in specific genes may suggest that those genes are not functioning properly. Such genes can then be investigated further, improving our understanding over itchy skin diseases so that effective treatments can be developed. The expected duration of this project is approximately 12 months.