Roberto Mendoza-Londono, MD, MSc, FACMG

Roberto Mendoza-Londono, MD, MSc, FACMG

Geneticist (Canada)

Dr. Mendoza-Londono obtained his Medical and Master’s degree in Biology with emphasis in Human Genetics degree from the Pontificia Universidad Javeriana in Bogotá, Colombia. He completed a residency in paediatrics at the State University of New York in Brooklyn and a fellowship in clinical and metabolic genetics at Baylor College of Medicine in Houston, Texas and joined the Genetics Division of The Hospital for Sick Children and University of Toronto in 2005. Dr. Mendoza has a long-standing interest in the genetics of connective tissue disorders, skeletal dysplasias and inherited bone disorders. As a member of the clinical team at he holds weekly general genetics and Skeletal Dysplasias and Inherited Bone Disorders clinics. In addition he runs a monthly multidisciplinary bone health clinic with team of health professionals from endocrinology, orthopeadics and physical therapy, interested in providing the best evaluation and care to patients with connective tissue disorders. His research interests include the identification of the genetic basis and molecular pathophisiologic mechanisms underlying common and novel genetic disorders, the delineation of the natural history and best management strategies for patients with skeletal dysplasias and inherited bone disorders and the development of clinical practice guidelines for the evaluation and management of patients with connective tissue disorders and syndromes associated with hypermobility. His current projects include determining the diagnostic effectiveness of whole exome sequencing in patients with clinically and radiologicaly undiagnosed skeletal dysplasia syndromes, and comparing the diagnostic yield of clinical panel testing versus whole genome sequencing in patients with hypermobility type EDS.