| Title: | Genetic validation of therapeutic drug targets and phenotype modifiers |
| Lead Institution: | Columbia University |
| Principal investigator: | Mr Shareef Khalid |
Application 74561
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About
The aim of this study is to leverage the UK Biobank and other large-scale biobanks, to understand the function of genes and how they can lead to diseases. The human genome has ~20,000 protein-coding genes. Understanding the function of these genes will help enable personalized health care solutions for patients. In this ongoing study we will identify gene-disease associations, such as with diabetes, fatty liver disease, etc., and gene-trait associations, such as with height, BMI, glucose, etc., in the UK Biobank and replicate these findings in other large-scale biobanks, giving us more confidence in the findings. Performing this analysis across every single protein-coding gene will yield valuable insights into the underlying biology of the human body, which can then be translated into clinically relevant and translatable findings. In addition to gene-trait or gene-disease associations, we will also use these data to investigate correlations between phenotypes such as whether carrying extra weight on your belly or hips is associated with equal risk of complex diseases e.g., cardiovascular and metabolic disorders.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 13606 | Sex differences in the relationship between body composition and cardiac structure and function | Heidi S Hartman (+4) | 2024 | European Heart Journal - Cardiovascular Imaging |
Enabling scientific discoveries that improve human health