| Title: | Elucidating the genetic basis of human traits and diseases across the allelic spectrum |
| Lead Institution: | University of Bonn |
| Principal investigator: |
Application 135122
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About
Our research is driven by the understanding that traits and diseases can be influenced by a combination and complex interplay of genetic and non-genetic factors. While many genetic variants contributing to certain conditions have been identified in previous studies, the etiological picture of most traits remains incomplete and, thereby, limits clinical transferability. This research project focuses on understanding how genetic variation contributes to human traits through the extension of existing analyses and the development of new methodologies. We plan to integrate information about external factors, clinical symptoms and additional data types with genetic information to uncover patterns across different traits and diseases and develop predictive models. To achieve our goals, we will use classical and advanced genetic analysis techniques and examine large datasets that include different facets of genetic information, detailed trait descriptions, and imaging data. By analyzing this data using various statistical methods, we aim to explore how genetic factors interact with other factors to influence behavior and health outcomes. The duration of our project is estimated to be 3 years. The potential impact of our research on public health is significant. By understanding the genetic basis of human traits and diseases, it provides rationales and frameworks for the development of personalized healthcare. The latter encompass treatments and interventions that can be tailored to an individual's unique genetic profile and lifestyle, leading to more effective outcomes. Additionally, our research may help overcome the limitations of traditional diagnostic categories, which often oversimplify complex conditions. By improving risk prediction and diagnostic accuracy, healthcare professionals can provide more targeted and precise care. In addition, our research also contributes to the broader field of gene discovery, which is crucial for understanding the biological mechanisms underlying human health and disease and, ultimately, paves the way for uncovering potential new drug targets. In summary, our research project aims to investigate the relationship between genetic variation and human traits and diseases. By integrating different types of data and applying various analysis methods, we hope to enhance our understanding of the genetic basis of human health, improve risk prediction and diagnostic accuracy, and ultimately advance personalized healthcare approaches. The potential impact on public health includes more targeted interventions, refined diagnostic categories, and advancements in gene discovery for future therapies.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 16976 | Exome sequencing points to pathogenic ATM variants in gastric cancer | Laura L. Koebbe (+42) | 2025 | European Journal of Human Genetics |
Enabling scientific discoveries that improve human health