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Old, new tech used to research genetic disorders in children

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KANSAS CITY, Kan. (AP) — The University of Kansas Medical Center is exploring genetic disorders in children with a combination of next-generation and century-old research methods.

The process starts with a roughly $1 million machine that is housed at the Hemenway Life Sciences Innovation Center and can sequence a person's DNA in as fast as two days, the Lawrence Journal World ( ) reported. After the machine spits out its findings, specialists look at the data to see which genes are mutated.

However, even healthy people have 50 to 100 mutations, which means more research is required to prove which gene or genes is causing a disorder, according to Peter Smith, KU Medical Center professor of molecular and integrative physiology. His research includes analyzing the genes of children with rare, undiagnosed disorders, as well as children with complex but known disorders, such as autism and Tourette's syndrome.

The next step, which happens at the Transgenic and Gene-Targeting Institutional Facility, is to create mouse embryos with genetic mutations matching the human profiles researchers are trying to study. Once the special mice are born and mature, they go to the Rodent Behavioral Facility, where director Ken McCarson and his staff observe and record their behavior, looking for symptoms that match the ones reported in the sick child.

While some tests there are high-tech, others are decidedly old-school, such as the Y-maze. A healthy mouse would explore all the arms, while one with cognitive loss would not, McCarson said.

Smith, who directs the Institute for Neurological Discoveries and co-directs the Intellectual and Developmental Disabilities Research Center, said the most exciting thing about his work is the possibility of translating diagnoses into therapies, although he stressed that much of his research is still in the early stages.

Previously, a common theory was that a mutation of a particular gene created a particular disorder and caused a sort of domino effect, said John Columbo, director of KU's Life Span Institute, home to the Intellectual and Developmental Disabilities Research Center.

But the more scientists learn about genomics, the more they're seeing it's not so simple, Colombo said. A configuration of genes seems to cause intellectual and developmental disabilities, he said, and environmental conditions that turn genes on and off may also be at work.

"It's a very complicated, intertwined story," he said.


Information from: Lawrence (Kan.) Journal-World,

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