GEN-X

 

The Gen-X Project, funded by La Marató de TV3, is an ambitious study focused on identifying the genetic and epigenetic risk factors of ischemic stroke (IS) and understanding their sex-specific differences. Led by Dr. Jara Cárcel-Márquez, from the Sant Pau Pharmacogenetics and Stroke Genetics group, and Dr. Beatriz López, from the eXiT group at UdG, the project aims to bridge critical knowledge gaps in stroke susceptibility and treatment personalization. The team will also include predoctoral researchers Paula Boldo, from the Sant Pau group, and Guillem Hernández, from the eXiT group.

 

 

Project Overview

Ischemic stroke is a complex neurological disorder caused by a sudden disruption in blood flow to the brain. In Spain, it is a leading cause of death, particularly among women, and a significant source of long-term disability. While traditional risk factors such as hypertension, diabetes, and lifestyle choices have been extensively studied, genetic predisposition remains an underexplored area, especially regarding its interaction with sex-specific factors.
The Gen-X Project addresses these gaps by leveraging cutting-edge genomic, transcriptomic, epigenomic, and proteomic data to uncover the biological pathways involved in IS. The study aims to identify actionable biomarkers to inform personalized prevention strategies and therapeutic approaches.

Objectives
The primary objective of the Gen-X Project is to understand the genetic and epigenetic factors associated with ischemic stroke risk in the Spanish population, with a particular focus on sex differences. The secondary objectives include:

  1. Conducting genome-wide association studies (GWAS) to identify genetic variants linked to IS and its subtypes.
  2. Identifying sex-specific genetic and epigenetic markers associated with IS.
  3. Integrating multi-omics data to elucidate the biological mechanisms underlying IS.
  4. Identifying potential drug targets and opportunities for drug repurposing.

Methodology
The project employs an observational analytical study design, utilizing existing genomic and clinical data from a cohort of 10,613 individuals (4,959 IS patients and 5,654 controls) recruited across Spain. The research is divided into four phases:

Phase 1: Genetic and Epigenetic Analysis

This phase involves genome-wide genotyping and epigenetic profiling to identify risk loci and CpG sites associated with IS and its subtypes.

Phase 2: Replication and Multi-Omics Integration

Key findings will be replicated in independent cohorts and integrated with transcriptomic and proteomic data to enhance biological understanding.

Phase 3: Functional Studies and Therapeutic Insights

Functional studies will explore the impact of identified genetic and epigenetic variants on stroke-related pathways, providing insights into potential therapeutic interventions.

Phase 4: Polygenic Risk Scores (PRS) and Personalized Risk Stratification

Polygenic risk scores will be developed to stratify patients into risk quartiles, facilitating personalized prevention and management strategies.

 

Meet our team: