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BioNexus KC: Children’s Mercy Director Fostering Regional Resources to Diagnose, Treat Rare Pediatric Diseases

Medicine is often referred to as an “art” rather than a science. Art by its nature is creative, reactive, and emotive. With more genetic research and functional DNA analysis available, researchers like Dr. Tomi Pastinen, Director of the Genomic Medicine Center at Children’s Mercy, strive to treat medicine more like the science it is. The promise of this approach is to treat causes of disease, not simply react to the symptoms.

For Pastinen, the goal is to integrate cutting edge research tools with new innovations into a translational diagnosis opportunity for current patients. Specifically, DNA samples submitted for clinical use undergo whole genome sequencing rather than routine short sequence sampling, an approach that is particularly impactful for pediatric patients with rare diseases.

“We do believe that much of the variation in unexplored territories of the human genome explain most unsolved diseases that currently constitute over half of our patients,” Pastinen said.

Pastinen is a self-proclaimed data geek but finds the greatest satisfaction in his work when his decades of research change the lives of a patient and their family. He created and leads the Genomic Answers for Kids program at Children's Mercy.

“This program is a large-scale approach to merge the research technologies that we’ve developed together with clinical assets and genetic assessment,” he said. 

Thanks to leaders like Pastinen, there is a new framework in treating rare pediatric diseases.


Read the full story via BioNexus KC

Learn more about Genomic Answers for Kids