Research // Metabolic Health //

Phenotyping and gene functional studies

The second step involves understanding how these gene variants cause metabolic alterations that could lead to development of diseases.

The Maurice Wilkins Centre genetic discovery programme provides evidence indicating that specific genetic factors are contributing towards inter-individual differences in the risk of metabolic diseases but does not reveal how this is happening or how this information could be used to improve treatments. Detailed phenotyping studies in humans aim to assess the relationship between these genetic variants and specific physiological processes. To date, the MWC has initiated phenotyping studies in Māori and Pacific men. The MWC will undertake a large-scale survey of Māori and Pacific women to understand how genetic variants are involved in the development of metabolic diseases in women, including polycystic ovary syndrome and gestational diabetes. Functional studies of the gene variants in experiments in cells and animals provide detailed information how the gene variants achieve these effects.  Together this information can uncover new types of treatments for better metabolic health outcomes. The goal is to use this information to better understand how we can maintain good metabolic health and better treat metabolic diseases.