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Dr. Gearóid Tuohy

Korean study shows that large gene deletions in TSPAN12 appear more common than single nucleotide variants in familial exudative vitreoretinopathy

Researchers investigating the genetic causes of familial exudative vitreoretinopathy (FEVR) in a Korean clinical study have found that patients with TSPAN12 large deletions appear to… Read More »Korean study shows that large gene deletions in TSPAN12 appear more common than single nucleotide variants in familial exudative vitreoretinopathy

GenSight Biologics Inc. reports sustained visual acuity 78 weeks after gene therapy treatment for Leber’s Hereditary Optic Neuropathy (LHON)

GenSight Biologics Inc., (EURONEXT: SIGHT), Paris, France, have announced that their GS010 treatment for LHON provides sustained visual acuity 78 weeks after a dose escalating… Read More »GenSight Biologics Inc. reports sustained visual acuity 78 weeks after gene therapy treatment for Leber’s Hereditary Optic Neuropathy (LHON)

Whole exome sequencing (WES) continues to yield significant efficiencies in clinical identification of inherited retinal degenerations.

Research results reported by investigators based at the Department of Genetics & Microbiology, University of Barcelona, Spain, have shown that whole exome sequencing (WES) continues… Read More »Whole exome sequencing (WES) continues to yield significant efficiencies in clinical identification of inherited retinal degenerations.