| Title: | Understanding the role of rare and common genetic variation in human phenotypes |
| Lead Institution: | University of Exeter |
| Principal investigator: |
Application 103356
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About
Understanding human health and disease across a person's life is essential and our work has important implications for public health and disease prevention. We work as a team using genetic approaches to improve our understanding of a range of health conditions, including diabetes, mental health and cancer, as well as investigating key human characteristics, including birth weight, sleep, physical activity, and age at menopause. Aims: To use genetics to improve our understanding of human health and disease across the lifespan. Scientific rationale: Studies like the UK Biobank provide a unique opportunity to improve our understanding of human health. The wealth of data available on 500,000 individuals, with ongoing data accumulated through access to individuals' GP records, as well as linked genetic data, enables us to better understand who gets ill and why. We hope that this work will improve prevention and early identification and treatment of health outcomes. This is becoming increasingly important as more people are living longer and living with multiple health problems. Part of our work will consider how multiple health problems might interact to result in overall poorer well-being. Project duration: This project will extend our decade-long experience of working with the UK Biobank. The wealth of data available means there is decades more work to do. Public health impact: Our research will have impact in three main areas. First, we will better understand what causes diseases. Second, we will identify groups of people who may have a higher risk of getting a particular disease or complication. This work contributes to a more personalised approach to medicine. Finally, we will be able to better understand why sometimes individuals who share the same genetic cause of disease may have different disease severity.6 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15596 | Clinical and Genetic Factors Associated with Neuroendocrine Neoplasms: A UK Biobank Study | Harry David Green (+6) | 2025 | Neuroendocrinology |
| 16368 | Evidence of bidirectional relationship between type 2 diabetes and depression; a Mendelian randomization study | Renu Bala (+8) | 2025 | Molecular Psychiatry |
| 16260 | Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants | Courtney E. West (+10) | 2025 | JAMA Network Open |
| 15609 | Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis | Paul Benjamin Loughrey (+42) | 2025 | European Journal of Endocrinology |
| 15097 | Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome | Susan Walker (+46) | 2025 | Genetics in Medicine |
| 15897 | Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels | Gareth Hawkes (+9) | 2025 | Nature Genetics |
Enabling scientific discoveries that improve human health