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Approved Research

Phenome-wide disease and trait associations of copy number variants across population groups.

Principal Investigator: Miss Micaela Eisenberg
Approved Research ID: 93555
Approval date: March 29th 2023

Lay summary

Changes at the DNA (deoxyribose nucleic acid) level can be inherited, and they cause disease or increase the chance of getting a disease. Through studies of the genetics of human disease, we can improve our understanding of the body processes underlying disease and work towards developing appropriate therapies.

My project focuses on a type of DNA change, called copy number variation, which is relatively large and complex. Large sections of DNA can be duplicated or may be deleted, in a way that changes the structure of the DNA by changing the number of times that section appears. Most genetic studies of human disease have focused on small changes to the DNA sequence.  However, it is more likely that these large scale changes will impact biological processes and there are already examples of copy number variation that cause disease.

Human populations have some genetic differences to each other, based on where their ancestors originate. It is important to consider how the genetic risks for a particular disease can differ across groups of people. This will help the medical field to understand what genetic risk factors are shared between populations and whether there are any risk factors that are specific to certain groups, enabling development of treatments appropriate to everyone regardless of genetic ancestry.

The aims of my project are:

1) To find copy number changes at sites throughout the DNA

2) To determine if these changes are involved in diseases or differences in other clinical features, for example blood pressure and height

3) To determine how these relationships differ between different groups of people

My PhD study will take three years to complete.