Scientists unravel DNA code behind rare neurologic disease

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Dr. Benjamin Greenberg

Scientists conducting one of the largest full DNA analyses of a rare disease have identified a gene mutation associated with a perplexing brain condition that blinds and paralyzes patients.

A UT Southwestern study that used genetic data from more than 1,200 participants may help scientists improve treatments of neuromyelitis optica (NMO). More broadly, the research demonstrates the potential of utilizing large DNA banks to better understand and treat other diseases that have not undergone full genetic sequencing.

“This outcome shows that doing in-depth research pays off, and more studies like this may be needed to find the problem behind other rare conditions,” said Dr. Benjamin Greenberg, an internationally recognized myelitis expert with UT Southwestern’s Peter O’Donnell Jr. Brain Institute. “By taking a rare disease and doing more than just reading every third or fourth page of genetic code, we have modeled NMO in a much more accurate way.”

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