Dr. Marie-Eve Robinson is a pediatric endocrinologist at the Children’s Hospital of Eastern Ontario, as well as a clinician investigator and assistant professor at the University of Ottawa. She holds a University of Ottawa Clinical Research Chair in Genetic Skeletal Disorders. She is the scientific director of SkeleTal Research on Novel Genes Program (STRONG Program), which aims to better characterize the phenotype of rare genetic bone disorders and identify new candidate genes associated with such disorders. Additional studies focus on drug therapy in osteogenesis imperfecta. Dr. Robinson is involved in national and international efforts to advance knowledge on pediatric bone diseases. She is the co-chair of the Canadian Consortium on Children’s Bone Health (CCCBH), a national network of Canadian pediatric endocrinologists working with children with pediatric bone disorders.
She is the chair of a subcommittee of the Pediatric Endocrine Society (PES) Bone and Mineral Interest Group aiming at identifying knowledge gaps and advancing pediatric bone health knowledge among pediatric endocrinologists across North America. Finally, she is involved in outreach programs aimed at improving the care of children with osteogenesis imperfecta living in developing countries such as Ecuador and Haiti.
Psychiatric disorders in emerging adults with diabetes transitioning to adult care: a retrospective cohort study
Prolonged gaps in care during transfer to adult care are common and may be associated with increased psychiatric disorder risk. Developmental factors associated with adolescence and emerging adulthood may further amplify this risk.
Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles
COL1A1 and COL1A2 mutations affect bone growth not only by inducing fractures and bone deformities, but also through longitudinal growth deficits in bones that do not fracture or deform.
Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2
Bisphosphonates seem to be effective at treating SGMS2-associated osteoporosis.
Mendelian bone fragility disorders
Interestingly, large sequencing databases indicate that there are about 10 times more carriers of COL1A1/COL1A2 variants that should lead to OI than there are individuals with a diagnosis of OI.
Osteogenesis Imperfecta: Skeletal Outcomes After Bisphosphonate Discontinuation at Final Height
None of the patients sustained a new vertebral compression fracture during follow‐up.