Discovery opens a new path in gene therapy for inherited blindness

Scientists at the University of Leeds discovered a new gene that is the root cause of one of the common forms of inherited blindness in infants. The research team found that mutation of the recessive gene, LCA5, causes Leber's congenital amaurosis (LCA). “LCA is usually a disease where protein function has been lost completely, but carriers of just one copy of the mutation, who will almost certainly have reduced protein levels, nevertheless function perfectly normally,” said Chris Inglehearn, professor at the Leeds Institute of Molecular Medicine, St. James's Hospital, Leeds. “This being the case, restoration of even a tenth of the missing protein may be enough to restore vision. So our findings, together with the recently announced clinical trials, hold great promise.” Mutations in LCA5 cause blindness only when a child carries two copies of the gene. The findings would be helpful in areas where marriage to first or second cousins is prevalent, as the disorder is more common among those populations.

Researchers at the University of Virginia Health System formulated a way to transfer genes that may restore hearing into diseased tissue of the human inner ear. The research team engineered a correct form of the gene KCNQ4, which when mutated causes hearing loss, and developed a gene therapy to transfer the gene into human hair cell harvested from the inner ear of the patients. “Our results show that gene therapy reagents are effective in human inner ear tissue. Taken together with the results from another group of scientists who showed that similar gene therapy compounds can produce new hair cells and restore hearing function in guinea pigs suggest that the future of gene therapy in the human inner ear is sound,” said Jeffrey Holt, associate professor of neuroscience and otolaryngology, University of Virginia.

Researchers at the University of Illinois-Chicago and Cornell University are developing a therapy to reactivate silenced genes in stroke and neurodegenerative patients. The study found that during a stroke, specific cellular events result in the death of brain cells. “For the first time, we show which one of the 11 histone deacetylase enzymes might be the best target to achieve cellular neuroprotection. This work gives us a good direction to follow in testing histone deacetylase inhibitors in animal models for diseases such as Parkinson's and Huntington's disease and even stroke,” said Alan Kozikowski, professor at the University of Illinois.

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