Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular level, helps predict the future visual prognosis, suggests therapies, and allows some patients to join clinical trials. While more than 200 genes for retinal degenerations have been identified, approximately 40-50% of cases remain a mystery.
Dr. Robert Koenekoop examines a child’s eyes and vision at the McGill Ocular Genetics Laboratory.
Credit:McGill University Health Centre
Research was supported by the Foundation Fighting Blindness, Canada. This work was also funded in part by grants to Dr. Cayouette from the Canadian Institutes of Health Research and the Brain Canada/W. Garfield Weston Foundation. Dr. Koenekoop is also funded by FORGE Canada, the Canadian Institutes of Health Research and the National Institutes of Health.
Partners in research:
This project is a collaboration between Dr. R. Koenekoop from the McGill Ocular Genetics Laboratory at the Montreal Children’s Hospital of the McGill University Health Network, which includes S. Cao, H. Ren, I. Lopez, V. Sun, V. Keser, and A. Khan; the laboratory of M. Cayouette from the Institut de recherches cliniques de Montréal (IRCM), including V. Ramamurthy; S. Kmoch, S. Fahiminiya, V. Stránecky, H. Hartmannová, A. P?istoupilová, K. Hoda?ová, L. Piherová, and L. Kucha? from the Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague; J. Majewski of the Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center; I. MacDonald from the Department of Ophthalmology and Visual Sciences, University of Alberta; A. Baxová from the Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague; R. Chen from the Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine; O. G. Povoas Barsottini from the Department of Neurology, Division of General Neurology and Ataxia Unit, Universidade Federal de São Paulo; A. Pyle, H. Griffin, and M. Splitt from the Institute of Genetic Medicine, Newcastle University; J. Sallum from the Department of Ophthalmology, Universidade Federal de São Paulo; J. L. Tolmie from the Clinical Genetics, Southern General Hospital, Glasgow; J. Sampson from the Institute of Medical Genetics, Cardiff University School of Medicine; P. Chinnery from the Institute of Genetic Medicine, Newcastle University; Care4Rare Canada; E. Banin and D. Sharon from the Department of Ophthalmology, Hadassah-Hebrew University Medical Center; S. Dutta and D. Kretzschmar from the Oregon Institute of Occupational Health Sciences, Oregon Health and Science University; R. Grebler and C. Helfrich-Foerster from the Lehrstuhl fuer Neurobiology und Genetik, Universitaet Wuerzburg; and J. L. Pedroso from Department of Neurology, Division of General Neurology and Ataxia Unit, Universidade Federal de São Paulo.