New CHEO web portal meant to help provide answers to children with rare diseases
By Elizabeth Payne, Ottawa Citizen February 28, 2014
The CHEO research institute opens the first-of-its kind international portal to help crack the code for patients with undiagnosed, rare diseases. Barb Shantz’s son Noah is one such person. He is five and has global developmental delays for reasons that doctors don’t understand.
OTTAWA – Every child is special, but children like five-year-old Noah Williams are rarities. Noah, who is developmentally delayed, was born with a genetic disease so rare that it doesn’t have a name. And – so far – doctors believe he is the only one.
But, somewhere in the world, there could be others with genetic sequences that match Noah’s and those kinds of matches could lead to better understanding and even treatment for children like Noah and thousands of others with rare genetic diseases.
The launch of a one-of-its-kind web portal at the Children’s Hospital of Eastern Ontario Research Institute on Friday is expected to improve understanding of rare genetic diseases by helping to find matches around the world and link doctors working with patients and researchers studying genetic diseases. Noah’s genetic information is among 5,000 sequences that will be part of the portal. It will include information from patients in Canada, the United States, Europe and Australia. – more