Blood, urine tests found to identify RP gene

November 6, 2013

A key marker in blood and urine has been found able to identify people who carry genetic mutations in a gene responsible for retinitis pigmentosa (RP) by researchers at Bascom Palmer Eye Institute at the University of Miami Miller School of Medicine (UMMSM).

 

Miami-A key marker in blood and urine has been found able to identify people who carry genetic mutations in a gene responsible for retinitis pigmentosa (RP) by researchers at Bascom Palmer Eye Institute at the University of Miami Miller School of Medicine (UMMSM).

“A simple urine test can tell who has the RP-causing mutations,” said Rong Wen, MD, PhD, professor of ophthalmology at Bascom Palmer. “Collecting urine is non-invasive and easy, especially from young children.”

Results of the research are published in the Journal of Lipid Research.

Scientists at UMMSM identified the first mutation in the gene, named DHDDS, in 2011.

 

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