KANSAS CITY (AP) – Research at Children’s Mercy Hospital in Kansas City is helping parents understand their children with neurological and developmental disorders.
Hospital researchers published their findings on 119 such children this week. The Kansas City Star reports they mapped the children’s entire exome, the 1 to 2 percent of the human genome responsible for most genetic disorders.
The research shows that such mapping can identify rare disorders. That’s important because children with those disorders can sometimes go years without getting a definitive diagnosis.
Lead researcher Sarah Soden says the research can help parents understand their children’s illnesses, as well as saving them tens of thousands of dollars in testing. After receiving the definitive diagnoses, doctors can use new drug or dietary treatments for some of the children.