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Approved Research

Integrative analysis for genetic and clinical signatures for common and rare skin diseases

Principal Investigator: Dr Matthew Patrick
Approved Research ID: 40212
Approval date: August 19th 2020

Lay summary

Skin is the largest human organ; skin diseases affect >30% of the population and significantly affect patients' quality of life. Many skin conditions have strong genetic components, and previous studies have utilized different case/control-based cohorts to unravel the genetic components. However, up to now, there has been very limited study aiming to provide a comprehensive survey to understand the shared and unique features underlying the broad spectrum of the skin conditions.

We will utilize clinical and molecular data available from the UK Biobank to address this challenge, investigating the skin diseases present in the UK Biobank in terms of their environmental factors, comorbidities, drug prescriptions, mental health and mobility. Furthermore, as additional genetic data is added to the UK Biobank, we will focus our efforts on identifying the genetic determinants of rare skin diseases, verifying previously suggested genetic loci as well as discovering potential new ones.

Our project is expected to last 5 years, and proceeds in stages, starting with cataloging the diseases in the UK Biobank in terms of their health records before focusing more on the relationship between these health records and genetics as the project progresses. We will make summaries of our results available through publications and our analysis pipeline deposited in open-source platform.

Main goal: To develop an effective approach using the UK Biobank as a population assay to identify unique genetic and clinical profiles for characterizing different skin conditions.

Aim 1: Catalog the molecular/biomedical information available on skin diseases through the UK Biobank and then investigate its potential for understanding the impact of diseases in terms of their environmental factors, comorbidities, drug prescriptions, mental health and mobility.

Aim 2: Identifying the unique genetic determinants of skin diseases and their prognosis by comparing the alleles for genetic markers in these patients with controls. Understanding how these unique determinants are shared with other human disorders.

We would like to clarify that we intend to study the comorbidities of skin conditions. This requires us to analyze data on diseases that may or may not have a direct relationship with skin conditions for three reasons: 1) To build the necessary tools and resources for comorbidity analysis; 2) To create suitable background distributions for comparison; and 3) To test whether previously unreported relationships may exist between different comobridities and skin conditions.