| Title: | Genomic structural variation in asthma: new insight into disease mechanisms to improve treatment strategies for people with asthma |
| Lead Institution: | University of Leicester |
| Principal investigator: | Dr Katherine Fawcett |
Application 56607
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About
Aims and rationale My aim is to understand how and why asthma develops and find out new approaches for treating asthma. I will do this by identifying inherited differences in DNA sequence between different people that increase the risk of asthma. In recent years, studies of inherited DNA variation have provided crucial information about asthma - identifying biological processes that were previously not known to have a role in asthma, and helping guide the development of new therapies. Most of these studies focused on identifying single-letter changes in the DNA sequence that increase risk of asthma. There are however other forms of variation that have received less attention. One of these forms is 'structural variation', which affects large chunks of the DNA sequence. For example, large chunks may be deleted, duplicated, inverted, or even moved to a different location in the human DNA sequence. Unsurprisingly, these complex structural variations can have a significant impact on our health and early studies have shown that they are important in asthma. Identifying and understanding this structural variation can tell us more about asthma biology and why it develops and, in doing so, help us to discover new treatments. Furthermore, identifying which variation an individual carries could also allow us to understand the particular asthma type that they have and how we can treat it. The aims of this study are: 1) To discover structural and single-letter variations that increase risk of asthma 2) To identify the biological processes through which these variations influence asthma and how they can help us to understand asthma types Likely timescale to impact This project has been funded for at least 3.75 years. By the end of this period I will have identified structural variations that impact asthma and further our understanding of asthma types, examined the biological processes affected by these variations and identified potential new therapeutic opportunities. How will this project benefit people with asthma? Identifying DNA variation that increases risk of asthma and asthma types is the first step to advancing our understanding of asthma biology and developing new treatments. Our findings could also contribute to development of diagnostic tests to predict asthma, classify types of asthma, and target individuals for preventative and other therapies.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 7127 | Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank | Katherine A. Fawcett (+7) | 2022 | BMC Medical Genomics |
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