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null Marie-Eve Robinson, MD, C.M., MSc, FRCPC

Shriners Investigator, RI-MUHC

Child Health and Human Development Program

Associate Professor of Pediatrics, Department of Pediatrics, Faculty of Medicine, McGill University

 

Keywords

rare bone diseases • osteogenesis imperfecta • achondroplasia • chronic pain • patient reported outcomes • precision medicine

Research Focus

My research focuses on advancing patient-centred care for children with rare bone diseases, including osteogenesis imperfecta, achondroplasia, hypochondroplasia, and X-linked hypophosphatemic rickets. I combine detailed characterization of patients’ health and disease features, patient-reported outcomes, and clinical trials to better understand disease burden, identify the factors that shape health and quality of life, and evaluate targeted treatments. Chronic pain is a major focus of my research because of its substantial, yet incompletely understood, impact on daily function and quality of life in children living with rare bone diseases. I also study precision drug therapies designed to target the underlying causes of these conditions, with the goal of improving health, function, and quality of life across childhood and adulthood.

Selected Publications

Click on Pubmed to see my current publications list

  • Savarirayan R, (…), Robinson ME, et al. Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia. The New England Journal of Medicine. 2026 Jun 28. doi: 10.1056/NEJMoa2604565. Epub ahead of print.

  • Sediqi A, Al-Khalili R, Peeters C, Sutton R, Khalif A, Dover S, Rauch F, Lee B, Storch E, Robinson ME. Mindful self-compassion to reduce pain interference among adults with osteogenesis imperfecta. Journal of Clinical Psychology in Medical Settings. 2025 Aug. https://doi.org/10.1007/s10880-025-10092-2.

  • Robinson ME, Rauch D, Glorieux F, Rauch F. Standardized Growth Charts for Children with Osteogenesis Imperfecta. Pediatr. Res. 2023;Sept. https://doi: 10.1038/s41390-023-02550-0.

  • Robinson ME, Rauch D, Glorieux F, Rauch F. Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2. Genet Med. 2022 June 3. https://doi.org/10.1016/j.gim.2022.05.008.

  • Robinson ME. Motivational Interviewing and the Use of Psychological Services Among Youth With Chronic Medical Conditions. JAMA Netw Open. 2021 Oct 1;4(10):e2129077. 10.1001/jamanetworkopen.2021.29077.