Phoenix research center discovers gene linked to rare disorder

PHOENIX — Researchers at the Translational Genomics Research Institute, known as TGen, identified a gene link to a rare condition that leads to physical and intellectual disabilities.

TGen’s Center For Rare Childhood Disorders discovered that certain variants of the newly identified DDX6 gene appears to play a key role in brain development.

Keri Ramsey is the clinical co-director of the center and explained how rare this condition really is.

“We found five separate, individual patients that have mutations in the gene called DDX6,” she said.

One of the people living with the gene mutation lives in Arizona.

“We did what’s called whole exome sequencing and we found a change in a gene that had never been described or associated with disease before,” Ramsey said.

She said once they found this mutation they began reaching out to worldwide databases to begin collaborating with other researchers.

“We decided to collaborated to characterize this new disorder,” she said. “We worked with patient cells to gain a better understanding of how this disease occurs in these patients.”

Some of the effects of the gene include intellectual disabilities, low muscle tone, moderate cardiac abnormalities and subtle facial changes.

Ramsey said that in identifying this gene, it gives the families of those directly affected by this disorder as well as others living with other intellectual disabilities hope for greater treatment options.

“Just the fact that we’re even able to describe this new disorder, and for families even figure out the cause, is a huge first step,” she said.

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