Unraveling the Genetics of Childhood Disorders

Laboratory shot: Unraveling the genetics of childhood disorders

By unraveling the genetic causes of rare brain disorders, Dr. Bill Dobyns is opening the door to innovative treatments for more common childhood diseases including autism, epilepsy and certain cancers.

“Many of these problems are driven by the same genetic mutations,” says Dobyns, a geneticist at Seattle Children’s Research Institute’s Center for Integrative Brain Research. “By identifying those mutations, we’re laying the foundation for therapies that negate their impact.”

Dobyns’s latest breakthrough came when he worked with Jean-Baptiste Rivière and other colleagues to discover mutations in three important genes that cause megalencephaly, a condition that occurs when a child’s brain is abnormally large. The mutations are also linked with cancer, autism, epilepsy, hydrocephalus and other disorders.

“This discovery is important in a number of ways,” Dobyns says. “One of the most exciting is the potential to use current drugs to address the problems that these mutations cause.”

For example, several experimental cancer drugs are designed to stop specific genetic pathways from malfunctioning. These drugs could be used to disarm the mutations that Dobyns and his team identified.

“We have good reason to believe these drugs could improve physical and intellectual development, as well as alleviate medical complications, in children with a variety of brain disorders,” Dobyns says.

He and his colleagues at the Center for Integrative Brain Research, including Drs. Kathy Millen and Robert Hevner, are actively pursuing this goal by developing an animal model that could be used to test these drugs.

“I expect this testing to progress quickly and it could translate into new bedside treatments within a relatively short time frame,” Dobyns says, “and that means we’re making progress toward the most important goal, which is helping children live better lives.”