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ARVO 2014: Breaking the 50-Percent Barrier in Successful Genetic Screenings

While it makes perfect sense to get excited about the progress being made in developing sight-saving treatments and cures, we shouldn’t lose sight (no pun intended) of the importance of successfully diagnosing patients. Though some therapies under development will work independent of patients’ defective genes, knowing their mutation(s) opens the door to a precise diagnosis, a more accurate prognosis and a much better understanding of which emerging therapies might save or restore vision down the road. Participation in clinical, or human, trials often requires a genetic diagnosis as well.

That’s why I am excited about genetic-screening achievements presented by an FFB-funded international research team at the annual meeting of the Association for Research in Vision and Ophthalmology. Led by Feng Wang and Rui Chen, Ph.D., at Baylor College of Medicine, the investigators were able to genetically diagnose approximately 58 percent of a diverse group of retinitis pigmentosa (RP) patients. The group of 552 people included those of Caucasian and Chinese ethnicity who acquired the condition through autosomal recessive, autosomal dominant and X-linked inheritance patterns.

Stephen P. Daiger, Ph.D., one of the team’s investigators, at the University of Texas Health Science Center at Houston, says this is a significant advancement, because the success rate two or three years ago for genetically screening such a diverse group would have averaged around 30 percent. Also, about 20 percent of the solved cases carried mutations in retinal disease genes that had not been previously associated with RP.

To screen the patients’ DNA, the scientists used a custom-designed panel, which is able to detect mutations in about 200 known retinal disease genes.

This study continues as the investigators attempt to crack the unsolved cases using a technique called whole exome sequencing, which targets exons, the regions in our DNA where disease-causing mutations are most likely to occur. This effort could lead to the identification of defective genes that had not previously been linked to retinal diseases.

To learn more about genetic screening and getting an accurate diagnosis, check out these Foundation articles and posts:

Getting the Right Diagnosis for a Retinal Disease

Making Accurate Diagnoses Possible

Your Gene is Their Business

Pictured, above: Feng Wang explains the FFB-funded genetic-screening project to an ARVO attendee.


One Response to 'ARVO 2014: Breaking the 50-Percent Barrier in Successful Genetic Screenings'

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