Blindness, although not life threatening, is a debilitating disorder for which few, if any treatments
exist. Ocular gene therapies have the potential to profoundly improve the quality of life in …

RNA enzymes – ribozymes – are being developed as treatments for a variety of diseases
ranging from inborn metabolic disorders to viral infections and acquired diseases such as …

… Hauswirth WWet al.Treatment of leber congenital amaurosis due to RPE65 mutations by
ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I …

The relationship between the neurosensory photoreceptors and the adjacent retinal pigment
epithelium (RPE) controls not only normal retinal function, but also the pathogenesis of …

… Hauswirth WW2006aSafety of recombinant adeno-associated virus type 2-RPE65 vector
delivered by ocular subretinal injectionMol. Ther.1310741084. Jacobson, SG, Acland, GM, …

The neuromuscular disease myotonic dystrophy (DM) is caused by microsatellite repeat
expansions at two different genomic loci. Mutant DM transcripts are retained in the nucleus …

The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that
underlies mammalian vision. Mutations in RPE65 disrupt the retinoid cycle and cause a …

We constructed gfph, a synthetic version of the jellyfish Aequorea victoria green fluorescent
protein (gfp) cDNA that is adapted for high-level expression in mammalian cells, especially …

… Drs Jacobson and Hauswirth contributed equally to the planning and conduct of this clinical
trial. Financial Disclosure: Drs Byrne and Hauswirth and the University of Florida have a …

Geographic atrophy (GA), an untreatable advanced form of age-related macular degeneration,
results from retinal pigmented epithelium (RPE) cell degeneration. Here we show that the …