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Children’s Mercy Transforms Pediatric Rare Disease Research

2/21/2025

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Summary

Story summary

Children’s Mercy in Kansas City is revolutionizing pediatric rare disease research with cutting-edge HiFi genome sequencing. Led by Dr. Tomi Pastinen, this groundbreaking technology accelerates diagnoses and uncovers genetic roots of rare conditions, bringing renewed hope to families grappling with these daunting challenges, especially during Rare Disease Month.

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Story summary

Children’s Mercy in Kansas City is revolutionizing pediatric rare disease research with cutting-edge HiFi genome sequencing. Led by Dr. Tomi Pastinen, this groundbreaking technology accelerates diagnoses and uncovers genetic roots of rare conditions, bringing renewed hope to families grappling with these daunting challenges, especially during Rare Disease Month.