CFRI researchers and their collaborators have discovered a new genetic mutation in a six-year-old-girl. Their finding solved a medical mystery for the young girl and her family. She was being treated at BC Children’s Hospital for developmental delays and other serious health problems that doctors were unable to explain. The medical team’s recently published findings may provide answers and eventually lead to improved therapies for other children who have similar symptoms and don’t respond to current treatments.
On May 22, 2015, CFRI investigators Dr. Sylvia Stocker and Dr. Elizabeth Conibear, along with collaborator Dr. Silvia Corvera, a professor at the University of Massachusetts Medical School, presented their discovery to an audience of leading researchers who study genetic disorders.
These researchers had gathered to attend the Garrod Symposium, an international event for scientists held in Vancouver, BC. The girl’s family also participated in the Symposium to speak about how this research has impacted their lives.
Dr. Clara van Karnebeek, a CFRI Investigator and member of the study team, chaired this year’s Garrod Symposium.
CFRI Link: www.cfri.ca/news/news/2015/06/16/newly-discovered-genetic-mutation-ends-a-young-girl-s-diagnostic-odyssey