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Approved research

Hormone processing in health and disease

Principal Investigator: Dr Elisa Araldi
Approved Research ID: 48008
Approval date: June 18th 2019

Lay summary

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.