From Science Daily:
A study published in the New England Journal of Medicine is one of the first to show the life-changing benefits of genome-wide sequencing for children with certain kinds of intellectual disability. The work was led by researchers at BC Children’s Hospital, an agency of the Provincial Health Services Authority, and the University of British Columbia.
The researchers diagnosed 68 per cent of the 41 families in the study with the precise underlying genetic condition and, based on this, were able to offer targeted treatments to more than 40 per cent of cases. They also discovered 11 new disease genes and described new physical traits and symptoms associated with a number of known diseases.
“This research is very encouraging because for a subset of patients we can identify the genetic underpinning of their intellectual disability and then determine the right intervention,” says Dr. Clara van Karnebeek, the study’s lead author, a paediatrician and biochemical geneticist at BC Children’s Hospital, and principal investigator in the Centre for Molecular Medicine and Therapeutics at the University of British Columbia. “There’s a bright future ahead for personalized medicine informed by genetic diagnosis.”
Some people’s intellectual disability is due to rare genetic conditions that interfere with the processes the body uses to break down food. Because of these metabolic dysfunctions, there is an energy deficit and build-up of toxic substances in the brain and body leading to symptoms such as developmental and cognitive delays, epilepsy, and organ dysfunction. Some of these rare diseases respond to treatments…