| Title: | Hormone processing in health and disease |
| Lead Institution: | ETH Zurich |
| Principal investigator: | Dr Elisa Araldi |
Application 48008
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About
Physiological process such as energy balance, reproduction, regulation of body fluids, and growth, require tight hormonal balance, which is fundamental to prevent disease development and negative pathological outcomes. Therefore it is critical to identify genetic causes of hormone imbalance to monitor individuals at risk. By using data from the UK Biobank and applying epidemiological and molecular epidemiological methods, we aim to provide knowledge on the predisposition to endocrine disorders associated with hormone processing, focusing especially in patients that carry mutations on and around genes responsible for producing hormones. We will require genetic data, physical, clinical and biochemical information of patients, and we will correlate these data with mutations of hormone processing genes, to understand the genetic predisposition of developing hormone imbalance and endocrine disorders. The research will be conducted using standard statistical methods for the association between genetic variations measured as single nucleotide polymorphism (SNPs), and other variables related to endocrine regulation and endocrine disorders. The project will last 12 months, and the data will be validated with studies in animal models and in vitro. The results obtained from this study may in the future lead to better identification of patients at risk of endocrine disorders and ultimately prevention.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 11562 | Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion | Giampaolo Trivellin (+29) | 2023 | Frontiers in Endocrinology |
| 10955 | Lithium treatment extends human lifespan: findings from the UK Biobank | Elisa Araldi (+2) | 2023 | Aging |
Enabling scientific discoveries that improve human health