MOLECULAR
GENETICS OF COMPLEX DISEASES
Dr. Vincent Raymond's research is focused on the identification of genes causing complex hereditary disorders and on the understanding of the molecular mechanisms leading to their clinical manifestations.
His research program is specifically aimed at two groups of ocular diseases: glaucomas and retinitis pigmentosa, as well as at one bone disorder ; Paget's disease. To find the genes associated with these disorders, his laboratory is using the procedures known as positional cloning.
Glaucoma is a complex ocular-disease characterized by an optic neuropathy in which degeneration of retinal ganglion cells leads to a characteristic narrowing of the visual fields, and when untreated, will cause blindness. It affects 1 to 2% of the general population above 45 years old. Glaucoma is often inherited but the molecular defects leading to this disorder still remain unknown. Over the past few years, Dr. Raymond and his colleagues, including Mr. Jean Morissette and several ophtalmologists of Réseau Glaucome Québec, have localized several glaucoma loci. More recently, they have discovered a particular mode of genetic transmission, known as hetero-specific dominance, in which homozygotes carrying an autosomal dominant TIGR mutation did not manifest glaucoma.
In collaboration with Dr Jacques Brown and Mr. Jean Morissette of the CHUL Research Center, Dr. Raymond is also studying Paget's disease of the bone. This disorder is characterized by high bone remodeling with typical osteoclastic inclusions. Although the disorder affects approximately 2 to 3% of the population above 55 years old, its etiology still remains unknown. In some families, Paget's disease is transmitted as an autosomal dominant trait. The researchers are studying several such families and are now in the process of identifying the disease loci.
These projects are supported by the Medical Research Council of Canada, the Fonds de la recherche en santé du Québec and the Glaucoma Foundation.
Winstall E, Gamache M, Raymond V. (1995) Rapid mRNA degradation mediated by the c-fos 3' AU-rich element and that mediated by the granulocyte-macrophage colony-stimulting factor 3' AU-rich element occur through similar polysome-associated mechanisms. Molecular and Cellular Biology, 15: 3796-3804.
Morissette J, Côté G, Anctil JL, Plante M, Amyot M, Héon E, Trope G, Weissenbach J, Raymond V. (1995) A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. American Journal of Human Genetics 56: 1431-1442.
Raymond V. (1997) Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. American Journal of Human Genetics 60: 272-277.
Morissette J, Clépet C, Moisan S, Dubois S, Winstall E, Vermereen D, Nguyen TD, Polansky JR, Côté G, Anctil JL, Amyot M, Plante M, Falardeau P, Raymond V. (1998) Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nature Genetics 19 : 319-321.
Mears A, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo W-L, Collins C, Marshall J, Gould D, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA. (1998) Mutations of the forkhead/winged helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. American Journal of Human Genetics 63: 1316-1328 (5).