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Approved Research

Large-scale genome-wide rare-variant analysis of asthma in a diverse cohort of patients with whole genome sequencing data

Principal Investigator: Dr Steven Gilhool
Approved Research ID: 65027
Approval date: October 18th 2021

Lay summary

On average, each person carries over 3 million genetic mutations, the vast majority of which are common and cause no harm. In the past decade, great progress has been made in identifying which of these common mutations do cause harm. Less progress has been made, however, in identifying rare mutations. Rare mutations are difficult to find and can be particularly harmful.

The aim of this project is to find genes with rare mutations that cause asthma. Asthma is the most common chronic condition in childhood, yet the genetic causes of asthma are not fully understood. Thanks to the UK Biobank and other large-scale sequencing projects, we now have enough data to search for rare, asthma-causing mutations. Identifying rare mutations will contribute to our understanding of the genetic causes of asthma, and is a necessary step in developing treatments.

This project will take place over the course of one year.