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Gene Sequencing Helps Twins With Rare Disorder
Date:6/15/2011

), the same medication used to treat people with Parkinson's, another disease in which dopamine deficiency also plays a crucial role.

That night, Alexis slept through the night for the first time in her life. Within 24 hours, Alexis, whose disease had grown more severe more quickly than her brother's, was able to walk on her own for the first time in months.

"We knew we were witnessing a miracle," Retta said.

Soon after, Noah's condition also began to worsen and he too saw marked improvement on L-Dopa.

All was going well until about six years ago when Alexis developed a severe, nagging cough and breathing difficulties. Doctors again were stumped. Asthma medications didn't work. After Alexis passed out from lack of oxygen, she had to give up sports. The family was giving her epinephrine in a nebulizer multiple times daily to keep her breathing.

By this point, the family had moved to San Diego and Joe Beery was working for Life Technologies Corp., based in Carlsbad, Calif., which makes gene sequencing technology used by researchers at Baylor Human Genome Sequencing Center. The Beery's wondered if whole-gene sequencing, which scans the entire genome for mutations, would yield answers about what was wrong with Alexis.

When the researchers at Baylor sequenced the twins' genome, they found that the twins had a particular subtype of dopa-responsive dystonia that prior research has shown isn't due to just a dopamine deficiency, but also to a serotonin deficiency, another key neurotransmitter.

Only about 3 percent of people with dopa-responsive dystonia have the mutation, said lead study author Matthew Bainbridge, a post-doctoral fellow at Baylor, whose research was published in the June 15 issue of Science Translational Medicine.

When the family got the results in January, physicians put the twins on a supplement, 5-HTP, to boost their serotonin levels, and within weeks Alexis's cough subsided. Noah also saw an impr
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