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Approved research

Phenome-wide association study of variants in developmental pathway genes

Principal Investigator: Dr Charles Hong
Approved Research ID: 49852
Approval date: October 17th 2019

Lay summary

The genes involved in the making of the embryo (embryonic development) often get turned on later in life to cause adult diseases, such as heart disease and cancer. Therefore, different versions (variants) of these genes may contribute to diseases in adults, not just children. We will search the UK Biobank to find links between variants in the genes important for embryonic development and human diseases. The genes to be examined will include those already known to be important for embryonic development based on the search of the scientific literature and based on ongoing studies into drug like chemicals that affect embryonic development. Next, we will use advanced mathematical technique to rank the strongest and most relevant gene-disease relationships. In addition, we will build a web-based search engine that will help us these gene-disease relationships rapidly and compared them to findings in other studies.