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Children’s Hospital Colorado expands genetic testing in hopes of detecting rare diseases sooner

Hospital’s Precision Medicine Institute is a support system for providers caring for kids with genetic conditions

Stephanie Burkhardt and her son, Connor, 6, play in the basement of the family’s home in Centennial on Wednesday, Aug. 9, 2023. Connor was diagnosed with Batten disease, a rare genetic disorder that affects the brain and nervous system, around the age of 3. With bi-weekly medication he started about a week after diagnosis from the Children’s Hospital, Connor can still walk, ride his bike, and communicate. (Photo by Grace Smith/The Denver Post)
Stephanie Burkhardt and her son, Connor, 6, play in the basement of the family’s home in Centennial on Wednesday, Aug. 9, 2023. Connor was diagnosed with Batten disease, a rare genetic disorder that affects the brain and nervous system, around the age of 3. With bi-weekly medication he started about a week after diagnosis from the Children’s Hospital, Connor can still walk, ride his bike, and communicate. (Photo by Grace Smith/The Denver Post)
DENVER, CO - MARCH 7:  Meg Wingerter - Staff portraits at the Denver Post studio.  (Photo by Eric Lutzens/The Denver Post)
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Getting your player ready...
For the first few decades of genetic testing, it was only possible to look for specific genes known to be important, but now it's become relatively affordable to read all the "letters" that make up someone's genes.
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