DNA studied to solve brain disease

UBC researchers are identifying the genetic underpinning of intellectual disabilities by sampling DNA from chronically sick children, according to Vancouver 24 Hours.

The study is the first of its kind, said UBC principal investigator Dr. Clara van Karnebeek, a biochemical geneticist and pediatrician at B.C. Children’s Hospital.

“The conventional testing was looking at the chromosomes and also doing some functional testing, looking at chemicals in the blood, are there signs of an energy problem? And then going back to the genes to see if we can find a mutation,” said van Karnebeek.