$3.6M gift expands efforts to diagnose rare genetic diseases

This post originally appeared here.

Imagine having a newborn baby who isn't doing well. Instead of moving her hands and legs spontaneously, she's limp, like a rag doll in your arms. She has trouble breathing on her own and feeding.

Imagine a 6-year-old who until recently was doing well in first grade. But now he has seizures, can't walk, has difficulty thinking clearly and is falling behind other kids in his class.

Now, imagine being a parent of one of these children and taking them from doctor to doctor trying, without success, to find out what is wrong. There probably aren't enough synonyms in a thesaurus to describe how you'd feel.

In an effort to put an end to these diagnostic quests for children with chronic genetic disorders and their families in the Mountain West, the Mark and Kathie Miller Pediatric Genomics Fund will contribute $3.6 million over the next five years to support a pair of pediatric genetic research programs at the Center for Genomic Medicine (CGM) at University of Utah Health.

The gift will allow the Utah NeoSeq Project and Penelope Program to expand and refine their testing and diagnostic efforts. NeoSeq uses rapid whole genomic sequencing (rWGS), cutting-edge computational analysis, and medical and scientific expertise to diagnose genetic disease quickly in severely ill newborns. The Penelope Program applies those same innovative approaches to children with undiagnosed and rare diseases,

"We are excited to be a part of this extraordinary program," Mark and Kathie Miller say. "We are confident it will become a resource and a model for the entire country."

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