| Title: | Integrated Genetic and Phenotypic Analysis of disorders spanning from childhood to adulthood |
| Lead Institution: | CHU Sainte-Justine Research Center |
| Principal investigator: |
Application 399545
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About
This project aims to investigate the genetic determinants of traits and diseases which can be present in childhood and persist into adulthood taking a lifetime perspective on health outcomes. We seek to deepen our understanding of the role of genetics in the development of hematological, endocrine, and immune diseases. We also want to improve our understanding of differences in medical treatment response between individuals. Specifically, we aim to: * 1. Identify genetic factors that contribute to diseases that can affect the youth, including endocrine (i.e. hormone), blood and immune system disorders. We will investigate genetic variation that is inherited at birth or acquired throughout life and their effect on disease risk. This approach allows us to evaluate the multifaceted effect of genetic variations and pinpoint clinical and biological variables that could serve as indicators of comorbidities and that could affect diagnosis and therapeutic interventions. * 2 : Hematologic, endocrine, and immunologic disorders can have significant impacts on individuals' health from childhood and have lasting consequences into adulthood. By identifying the genetic variations that contribute to these conditions and understanding their broader effects, we can gain valuable insights into disease mechanisms and potential therapeutic approaches. In our project, we will specifically look at individuals carrying genetic mutations causing pediatric diseases to characterize their health trajectories into adulthood. We will also investigate how the environment modulates how genetic predisposition leads to disease development or differences in treatment response to improve precision medicine. Finally, using statistical approaches that aim to estimate causal effects, we will predict whether interventions on candidate biological markers are likely to modify the disease course to prioritize therapeutic strategies.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 17454 | Development and validation of a trans-ancestry polygenic risk score for type 1 diabetes | Basile Jumentier (+15) | 2026 | Diabetologia |
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