About the Project 

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 conditions affect connective tissue and can lead to chronic pain, joint instability, fatigue, and multisystem complications, yet their biological causes remain poorly understood. 

This project brings together clinical expertise, advanced genomics and proteomics, artificial intelligence, and real-world patient data to better understand the biological mechanisms underlying hEDS/HSD. By studying affected individuals and their first-degree relatives, the program aims to uncover disease subtypes, biomarkers, and pathways that can ultimately improve diagnosis, classification, and care. 

Our Mission 

Our mission is to transform the understanding and management of hEDS and HSD by integrating molecular data with deep clinical, lifestyle, and environmental information. 

We aim to move beyond symptom-based diagnosis toward a data-driven, biologically informed framework that supports personalized medicine, improves patient experiences, and accelerates research in rare connective tissue disorders. 

Key Objectives 

  • Build a comprehensive hEDS/HSD cohort in Québec by enrolling 300 affected individuals and 700 first-degree relatives 

  • Collect and integrate multi-omic data, including genomics and proteomics, with detailed clinical and real-world phenotypic data 

  • Develop and apply AI-driven analytical tools to identify disease subtypes, biomarkers, and genotype-phenotype associations 

  • Study familial aggregation, inheritance patterns, penetrance, and variability of hEDS/HSD 

  • Establish a secure, high-quality database and biobank to support current and future research 

  • 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 

By creating a sustainable research infrastructure, the program aims to reshape the future of hEDS/HSD research and care, both in Québec and internationally. 

Collaborators 

The hEDS*omics Program is a collaborative effort involving clinicians, researchers, patient organizations, and technology partners across Québec and beyond. 

Clinical and Academic Partners 

  • McGill University Health Centre (MUHC) 

  • Centre Hospitalier de l’Université (CHU) de Montréal (CHUM) 

  • CHU Sainte-Justine 

  • CHU de Québec 

  • McGill University – Department of Human Genetics and the Canada Excellence Research Chair in Genomic Medicine (CERC) 

Technology and Data Science Partner 

  • Medeloop Canada Inc., providing the secure digital platform and AI-based analytics infrastructure 

Patient and Community Partners 

  • Regroupement Québécois des Maladies Orphelines (RQMO) 

  • International collaborators and EDS research networks, including CHU Lausanne, Switezrland, and … 

This multidisciplinary collaboration ensures that the project remains scientifically rigorous, clinically grounded, and patient-centered. 

Principal Investigators

  • Department of Human Genetics, McGill University: Vincent Mooser M.D.,

  • McGill University Health Center: Laura J Russell M.D.

Clinical PIs 

  • McGill University Health Center: 　Maria Daniela D’Agostino M.D., MSc.  

  • CHUM: Ahmed Zaki Anwar El Haffaf M.D. and Camille Laflamme M.D. 

  • CHU Sainte-Justine: Anne-Marie Laberge M.D-Ph.D. and Philippe Campeau M.D. 

  • CHU de Québec: Violaine Dalens M.D. 

Co-Investigators

  • Department of Human Genetics, McGill University: Goodarz Kolifarhood Ph.D., Sirui Zhou Ph.D, and Daniel Taliun Ph.D.  

Research Research & Management Team

  • Department of Human Genetics, McGill University: Tobias Erlanger Ph.D., Sevinj Yolchuyeva Ph.D., Mayu Yoshida

External collaborators: Benoît Delabays, M.D., Lausanne University Hospital (CHUV), Switzerland, Gail Ouelette, Ph.D., Regroupement Québécois des Maladies Orphelines (RQMO), Jonathan Pratt, Ph.D. MBA, RQMO 

Funding: 

  • MEDTEQ+ 

  • Mitacs 

  • Medeloop, Inc.;  

  • McGill CERC Program in Genomic Medicine 

  • EDS Society 

  • Canadian Institute of Health Research 

Visit our McGill website: hEDS*Omics Research Program