Investigating developmental retina vascular diseases
Developmental retina vascular diseases (DRVD) are a leading cause of childhood blindness in developed countries and an emerging problem in developing nations.
Molecular and phenotypic associations between familial exudative vitreoretinopathy (FEVR), a hereditary DRVD, and the more common non-hereditary retinopathy of prematurity (ROP) strongly suggest that elucidating the mechanisms that guide retina vascular development can guide the development of effective therapies for this group of conditions.
Using a model that starts with patients and ends with patients, our multi-disciplinary team of researchers aims to:
- identify the genes that cause FEVR and other related conditions
- study the role of the proteins encoded by these genes
- use genetic models to find new treatments that will prevent childhood blindness
- Ngo MH, Borowska-Fielding J, Heathcote G, Nejat S, Kelly ME, McMaster CR, Robitaille JM. Fzd4 Haploinsufficiency Delays Vascular Recovery in the Ocular Ischemic Retinopathy Mouse Model. Submitted IOVS April 2015.
- Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Phenotypic Overlap Between Familial Exudative Vitreoretinopathy (FEVR) and Microcephaly Lymphedema Chorioretinal Dysplasia (MLCRD) Caused by KIF11 Mutations. JAMA Ophthalmology 2014 Dec; 132(12): 1393-99.
- Robitaille JM, Zheng B, Wallace K, Beis MJ, Tatlidil C, Yang J, Sheidow TG, Siebert L, Levin AV, Lam WC, Arthur BW, Lyons CJ, Jaakkola E, Tsilou E, Williams CA, Weaver RG, Shields CL, Guernsey DL. The Role of Frizzled-4 (FZD4) Mutations in Familial Exudative Vitreoretinopathy (FEVR) and Coats Disease. British Journal of Ophthalmology 2011 Apr:95 (4): 574-9.
- Ells A, Guernsey DL, Wallace K, Zheng B, Vincer M, Allen A, Ingram A, DaSilva O, Siebert L, Sheidow T, Beis MJ, Robitaille JM. Severe Retinopathy of Prematurity Associated with FZD4 Mutations. Ophthalmic Genet 2010 Mar:31(1):37-43.
- Robitaille J, MacDonald MLE, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nature Genet 2002; 32: 326-330.