Retinal Degeneration
Scientists at University of Michigan target retinal degeneration
Published in Genetics and Environmental Business Week, July 30th, 2009
"Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes," scientists in the United States report.
"As part of our resequencing efforts of the ciliary proteome, we identified several putative...
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