| Title: | Genomic Studies for Nervous System and Spine Pathologies |
| Lead Institution: | Icahn School of Medicine at Mount Sinai |
| Principal investigator: |
Application 814683
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About
Research Question: How do genetic variations influence the risk, progression, and therapeutic outcomes of nervous system and spine pathologies? Primary Outcome: Identification and characterization of genetic variants associated with the nervous system and spine pathologies. This includes understanding the role of these variants in the disease's susceptibility, progression, and response to treatment, thereby contributing to the personalized medicine approach. Secondary Outcomes: 1) Analysis of genotype-phenotype and phenotype-phenotype correlations to elucidate the genetic architecture of nervous system and spine pathologies; 2) evaluation of the potential for pharmacogenomic strategies to optimize therapeutic interventions for these conditions; 3) development of a predictive model for disease risk and progression based on genetic markers, such as a polygenic risk score; 4) assessment of the genetic diversity within patient populations affected by nervous system and spine pathologies, to inform future research and treatment approaches; 5) identification of gene-environment interactions (G × E) to understand how genetic predispositions and environmental factors together influence the development and progression of nervous system and spine pathologies, aiming to uncover modifiable risk factors and tailor prevention strategies The principle of Mendelian randomization study design is to observe associations between specific genetic variants and outcomes, given the variant is associated with a designated exposure of interest. Using genetic markers as identifiers for risk factors/exposures would minimize bias such as environmental and lifestyle confounders, because germline variations are randomly inherited and independent of these factors. This methodology also avoids the pitfalls of reverse causality bias, as germline variations are stable after conception and free from modification by acquired diseases. A study utilizing this methodology minimizes confounding.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 19912 | Bone Density Contributes to Lumbar Disc Herniation: A Mendelian Randomization Study | Temitope M. Adegbenro (+3) | 2026 | Spine Open |
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