About Research
The hEDS*omics Program is a large, multicenter research initiative in Québec focused on hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD). These complex connective tissue conditions affect millions globally, manifesting through chronic pain, joint instability, debilitating fatigue, and multisystem complications that significantly impact quality of life.
Despite their widespread prevalence, the biological mechanisms driving hEDS and HSD remain poorly understood, leading to diagnostic delays and limited treatment options. This project unites clinical expertise, cutting-edge genomics and proteomics technologies, artificial intelligence, and comprehensive real-world patient data to illuminate the molecular foundations of these conditions. By studying both affected individuals and their first-degree relatives, we're uncovering disease subtypes, identifying biomarkers, and mapping biological pathways that will revolutionize diagnosis, classification, and personalized care approaches.
Key Objectives
Comprehensive Cohort
Build a comprehensive hEDS/HSD cohort in Québec by enrolling 300 affected individuals and 700 first-degree relatives
Multi-Omic Integration
Collect and integrate multi-omic data, including genomics and proteomics, with detailed clinical and real-world phenotypic data
AI-Driven Analytics
Develop and apply AI-driven analytical tools to identify disease subtypes, biomarkers, and genotype-phenotype associations
Familial Pattern Analysis
Study familial aggregation, inheritance patterns, penetrance, and variability of hEDS/HSD
Research Infrastructure
Establish a secure, high-quality database and biobank to support current and future research
Global Collaboration
Enable responsible data sharing to advance national and international research collaborations
Impact
The hEDS*omics Program is designed to have lasting scientific, clinical, and societal impact:
For patients
Improved understanding of their condition, reduced diagnostic uncertainty, and groundwork for more personalized care
For clinicians
Better tools to classify and manage hEDS/HSD based on biological evidence
For researchers
One of the most deeply characterized hEDS/HSD datasets globally, enabling future discoveries
For healthcare systems
Potential reductions in diagnostic delays, inappropriate care pathways, and long-term healthcare burden
For society
Advancing equity and visibility for rare and under-recognized conditions