Investigating genetic variations in childhood and adult onset lupus

Disease - Systemic lupus erythematosis

Lead applicant - Professor Timothy Vyse

Organisation - King's College London

Type of grant - PhD Scholarship

Status of grant - Active

Amount of the original award - £157,316.56

Start date - 1 October 2016

Reference - 21252

Public Summary

What are the aims of this research?

Changes in a gene called C1QTNF4 have been shown to contribute to the risk of developing adult lupus. The research aims to understand the normal function of C1QTNF4 and how variations in this gene affects these activities. Additionally, the research team aim to establish which unique genetic factors lead to the development of lupus in children.

Why is this research important?

A greater understanding of the underlying genetic causes and disease mechanisms in both childhood and adult onset lupus is essential in order to improve the treatment of this condition.

This research team have recently identified a change in a gene called C1QTNF4 in adult lupus, however the function of this gene is not well understood. Through investigating the normal function of this gene in healthy individuals, they aim to understand how changes to this gene affects its role and leads to in the development of disease. These findings may provide targets for new treatments for lupus.

In addition, by taking advantage in recent developments in DNA sequencing, the researchers aim to identify genetic changes which may lead to the development of lupus in children, which will improve our understanding of this diverse disease.

How will the findings benefit patients?

This research could lead to the identification of biological pathways that could be targets for the development of novel treatments for both childhood and adult lupus. This would be of particular importance for childhood lupus, which is more severe.