Identifying the genetics of retinal degeneration has become especially important with progress of trials in gene therapy. Investigators have identified more than 200 retinal degeneration disease genes, but still haven’t been able to find the cause of disease in up to half of cases.
Now Ocular Genomics Institute has announced that Drs. Michael Farkas, Eric Pierce, and colleagues (Ocular Genomics Institute, Massachusetts Eye and Ear) have identified almost 30,000 novel exons and over 100 potential novel genes not identified previously. Exons are the portions of the genome that are used to encode proteins or other genetic elements.
The investigators validated almost 15,000 of these novel transcript features and found that more than 99 percent of them could be reproducibly detected. Several thousand of the novel exons appear to be used specifically in the retina. In total, the newly detected mRNA sequence increased the number of exons identified in the human genome by 3 percent.
This new data provides an unprecedented opportunity to translate research progress into sight preservation and restoration in patients with retinal degenerative disorders.
Source: Ocular Genomics Institute