Earlier this month scientists from the McGill University Health Centre discovered a new gene that is linked to Leber congenital amaurosia (LCA) and Retinitis Pigmentosa, the leading causes of childhood blindness. Scientists hope that the discovery of these genes will enable them to develop gene therapy treatments to restore at least some of the sight lost to these conditions (Colle, 2009).
LCA and Retinitis Pigmentosa are two variations in childhood blindness, both of which are devastating for the families of the children affected. In select cases the conditions improve slightly as the child gets older or can be improved by conventional means such as glasses. However in the majority of cases the child is left with very limited vision or complete blindness (Vision Australia, 2008).
There were previously 14 genes that where associated with LCA and Retinitis Pigmentosa but with the discovery of this new gene, named SPATA7, scientists hope to better understand the cellular mechanisms involved with both of these diseases (Koenekoop, 2009). The scientists at the Montreal Children’s Hospital Centre, lead by Dr. Koenekoop will be able to research gene therapy as a treatment since the discovery of SPATA7 gave them a better understanding of the metabolic processes involved with childhood blindness.
"This is an incredible discovery that gives great hope to LCA patients and their families, that gene based therapies can and will be developed to restore sight" (Colle, 2009)
References:
Vision Australia, Leber’s Congenital Amaurosis Fact Sheet (20/8/20080), retrieved 21/3/09 from http://www.visionaustralia.org.au/info.aspx?page=1741
Vision Australia, Retinitis Pigmentosa (20/8/2008), retrieved 21/3/09 from http://www.visionaustralia.org.au/info.aspx?page=607
Preidt, Robert (5/3/2009). “Retinal Gene Is Linked to Childhood Blindness”, HealthDay News
Wang et al. (2009), Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa, The American Journal of Human Genetics (research not published on date of reference)
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