Children’s Mercy innovation one of Time’s top 10 medical breakthroughs

12/20/2012 5:59 PM

05/16/2014 8:36 PM

Kansas City doesn’t have Time magazine’s person of the year — that’s President Barack Obama.

But it does have one of Time’s top 10 medical breakthroughs of 2012.

A technology developed at Children’s Mercy Hospital is ranked No. 7 — just ahead of a genetic project to help identify cancer in kids and behind one to decode the genes involved in breast cancer. The technology goes by the registered trademark name of STAT-Seq., meaning fast sequencing.

It essentially takes the DNA of a newborn baby and uses a newly developed high-speed genetic sequencer to read all the infant’s genes while at the same time cross-referencing those findings against a database of mutations that can cause genetic diseases.

“Not only are we finding known causes of genetic disease, we are also finding new ones,” said Carol Saunders, a molecular geneticist and clinical director of the hospital’s Center for Pediatric Genomic Medicine.

Children can be born with a variety of some 7,000 genetic diseases, many of them rare and difficult to diagnose. About 30 percent of children in neonatal intensive care units are there because of genetic diseases.

It used to take many weeks to decode a child’s DNA — delaying treatments and putting parents through much fret and worry. But the Children’s Mercy technology uses a blood sample to help accurately diagnose, or at least narrow down possible diagnoses, in as little as 50 hours.

“And those two days can mean the difference between life and death for a critically ill infant,” the magazine declared.

The technology was developed under the leadership of researcher Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine. The high-speed sequencer was developed by a San Diego-based firm, Illumina Inc.

Children’s Mercy says it has used the technology on about 15 people so far.

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