RARE Daily

Miller Family Contributes $3.6 million to Support Pediatric Genetic Research at U of Utah Health

November 10, 2022

Rare Daily Staff

In an effort to put an end to the diagnostic odyssey for children with chronic genetic disorders and their families, 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 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,” said Mark and Kathie Miller. “We are confident it will become a resource and a model for the entire country.”

About one in four newborns treated in neonatal intensive care units (NICU) are suspected of having some sort of genetic disorder, said Sabrina Malone Jenkins, a neonatologist at U of Utah Health, and the principal investigator of NeoSeq.

A handful of NICUs in the U.S., including at U of Utah Health, are now searching for genetic causes of disease in these infants by reading, or sequencing, the three billion DNA letters that make up the human genome in order to shorten the diagnostic odyssey and begin providing appropriate care as soon as possible.

The Center for Genomic Medicine (CGM) investigators, in collaboration with ARUP Laboratories, established the Utah NeoSeq Project in 2020. In some cases, this program has provided a genetic diagnosis to NICU patients in less than a week. Since it began, NeoSeq has diagnosed about 35 percent of its patients, based on genetic analysis of blood samples from 55 infants and their parents.

“This is life-changing research for our patients and their families,” said Sabrina Malone Jenkins, principal investigator at NeoSeq. “It allows the care team to identify what is wrong with the baby and personalize any treatment that can be offered. It also offers some clarity to a family that helps them understand why their baby is so sick and why they’re in the NICU. It gives families and caregivers a roadmap of potentially what to expect moving forward.”

Malone Jenkins says support from the Miller Fund will allow NeoSeq to test more NICU infants and let researchers conduct more extensive genomic sequencing, which will lead to better detection of rare genetic disorders.

The Penelope Program benefits children with serious, complex conditions who remain without a diagnosis despite multiple evaluations. A multidisciplinary team of clinicians and researchers from the University of Utah thoroughly examines and assesses the children, searching for clinical clues and changes in their DNA that can reveal a diagnosis. Their efforts also capitalize on the expertise of key partners from ARUP Laboratories and the Utah Center for Genetic Discovery.

Since its founding in 2016, the Penelope Program has evaluated 119 families and identified several genes associated with rare conditions including neurological diseases and bone disorders. Nearly 50 percent of Penelope patients have received a diagnosis.

“After all they’ve gone through, families usually come in expecting that we’re going to tell them that we didn’t find anything,” says Lorenzo Botto, the principal investigator for the Penelope Program and professor of pediatrics at U of Utah Health. “When we do find a diagnosis, this takes a big weight off their chests. But when we don’t find a diagnosis, we do not give up—we stick with families because there is hope.”

The Miller gift will allow the Penelope Program to evaluate an additional 75 patients and their families over the next five years.

The Penelope Program is one of a dozen clinical sites in the National Institutes of Health-supported Undiagnosed Diseases Network, a national consortium of medical and research centers working together to improve diagnosis and care of patients with undiagnosed diseases.

Photo: Sabrina Malone Jenkins, principal investigator at the Utah NeoSeq Project

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