Research Articles - Other Retinal Diseases
Four research teams, including two funded by the Foundation Fighting Blindness, have found a new gene linked to Leber congenital amaurosis (LCA), a form of retinal degeneration that causes severe vision loss or blindness at birth. Known as NMNAT1, it is the 18th gene linked to LCA. By knowing the gene, researchers are better able to understand why defects in it cause vision loss. The knowledge also helps scientists identify potential targets for vision-saving treatments. Thus far, the researchers have determined that NMNAT1 ultimately plays a key
The study’s lead investigators, Andras Komaromy, D.V.M., Ph.D., and Gustavo Aguirre, V.M.D., Ph.D., presented the results of their FFB-funded achromatopsia study in April 2008 at the annual conference of the Association for Research in Vision and Ophthalmology.
A research team led by Robert Molday, Ph.D., at the University of British Columbia in Vancouver, has moved a step closer to developing a gene therapy for people with Leber congenital amaurosis (LCA) caused by mutations in the gene RD3. The investigators used an RD3 replacement gene therapy to restore photoreceptor function in mice with the condition, and plan to test the treatment in canines with RD3 mutations. Results of their
Continuing its role of fostering collaboration and knowledge-sharing to accelerate the clinical development of retinal disease therapies, the Foundation Fighting Blindness Clinical Research Institute (FFB CRI) co-hosted its Sixth Annual Orange County Innovation Symposium on February 27. This year’s event took place at the Gavin Herbert Eye Institute (GHEI), University of California, Irvine (UCI), which also served as co-host. William Link,
On the heels of the report in The Lancet that choroideremia gene therapy restored vision in a human study at Oxford University, a new company called Nightstar has been spun out of the institution to advance the treatment as well as other emerging retinal disease gene therapies. Syncona LLP, an independent subsidiary of the Wellcome Trust, which is funding the choroideremia trial, is making an investment of more than $16 million in Nightstar.
Aerobic exercise is well-known for helping people stay trim, stave off heart disease and improve mood, but a study by researchers at Emory University and the Atlanta Veterans Administration Medical Center suggests that it also can preserve vision in those with retinal degenerative diseases. While the investigation was in mice, the scientists believe the results, published in The Journal of Neuroscience, may translate to humans.
Foundation-funded researchers at the Radboud University Medical Center in the Netherlands have found that mutations in the gene POC1B can cause cone dystrophy (COD) and cone-rod dystrophy (CRD). These retinal degenerative conditions are characterized by progressive loss of central vision, with CRD also leading to peripheral vision loss. The discovery of harmful defects in POC1B will help scientists diagnose more
An international research team, funded in part by the Foundation Fighting Blindness, has used gene therapy to reactivate retinal cells that were previously unresponsive to light. The treatment was delivered to cones, the retinal cells that provide central and daytime vision. Investigators evaluated the gene therapy in two mouse models of retinal degenerative disease, as well as cultures of human retinal tissue. Using a variety of tests, the researchers demonstrated that the treated cells restored functional vision, and that the restoration of vision persisted over a long period of time.