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November 2, 2022 15:00
Imagine a depressed newborn baby. Instead of moving her limbs voluntarily, she’s limping around like a rag doll. She has problems with her breathing and feeding.
Imagine a 6-year-old who, until recently, did well in 1st grade. But now he has seizures, can’t walk, has trouble thinking clearly, and is falling behind the other kids in his class.
Now imagine, as the parent of one of these children, taking them from doctor to doctor trying to find out what’s wrong. A thesaurus may not have enough synonyms to describe how you feel.
To end the pursuit of diagnostics for children with chronic genetic diseases in Mountain West and their families, the Mark and Kathy Miller Pediatric Genomics Foundation will contribute $3.6 million over the next five years to support a pair of pediatric genetic studies. We support. Program in the Center for Genomic Medicine (CGM) at Utah Health University.
This donation will allow Utah’s NeoSeq project and the Penelope Program to expand and improve testing and diagnostic efforts. NeoSeq uses rapid genome sequencing (rWGS), state-of-the-art computational analysis, and medical and scientific expertise to rapidly diagnose severe neonatal genetic diseases. The Penelope Program applies the same innovative approach to children with undiagnosed rare diseases.
“We are thrilled to be part of this special program,” said Mark and Cathy Miller. “I am confident that it will become a resource and model for the entire country.”
If you would like to join Millers and support the NeoSeq and/or Penelope programs, please contact Steven Finkelstein at steven.finkelstein@hsc.utah.edu.
Transforming neonatal care and diagnostics
About one in four newborns treated in the neonatal intensive care unit (NICU) is suspected of having some type of genetic disorder, says Sabrina, a neonatologist at U of You Health and principal investigator at NeoSeq. Malone Jenkins, M.D., said.
A small number of US NICUs, including the U of U Health, are currently searching for the genetic causes of these infant ailments by reading or sequencing the 3 billion DNA letters that make up the human genome.
In the past, weeks, months, or even years of manual computer analysis were required to diagnose disease. In many cases no cause was identified. Neonatal doctors say the critical time gap needs to be closed so that proper care can begin as soon as possible.
To address this shortage, CGM researchers founded the Utah NeoSeq project in 2020. In some cases, the program can provide her NICU patient with a genetic diagnosis within a week of her. Since its inception, NeoSeq has diagnosed approximately 35% of patients based on genetic analysis of blood samples from 55 infants and their parents.
“This is life-changing research for patients and their families,” says Malone Jenkins. “This will help the care team identify what is wrong with the baby and personalize the treatment they can offer. It provides some clarity that helps. It gives families and caregivers a roadmap of what to expect in the future.”
Malone Jenkins said the support from the Miller Fund will allow NeoSeq to test more NICU infants, allowing researchers to perform more extensive genome sequencing and better diagnose rare genetic diseases. I think it will lead to detection.
“We are so excited and grateful for the Miller family’s generosity and support,” said Malone Jenkins.
Solve the most complex pediatric cases
The Penelope Program benefits children with serious and complex conditions who have not been diagnosed after multiple assessments.
A multidisciplinary team of clinicians and researchers at the University of Utah will scrutinize and evaluate children, looking for clinical clues and DNA changes that can reveal a diagnosis. Their work also leverages the expertise of key partners at his ARUP Laboratories and the Center for Gene Discovery in Utah, renowned for developing innovative genomic analysis tools.
Since its inception in 2016, the Penelope Program has evaluated 119 families and identified several genes associated with rare conditions such as neurological and bone disorders. Nearly 50% of Penelope patients are diagnosed.
“After they’ve been through it all, families usually come in expecting us to tell them they didn’t find anything,” said principal investigator of the Penelope Program and professor of pediatrics at the U. says one Lorenzo Bott, M.D. of U Health. “Once the diagnosis is confirmed, the burden on the patient’s chest is greatly reduced.
A definitive diagnosis allows clinicians to improve care while avoiding duplicate tests and tests. Families can connect with other families with the same medical condition and find a ‘home’. Researchers can work to find better treatments.
Importantly, the team’s expertise combined with advanced genomics can dramatically shorten the typical diagnostic journey of years, says Botto.
Miller’s donation will allow the Penelope Program to evaluate an additional 75 patients and their families over the next five years.
“This support is a great gift to family and science,” Bott says. “It will help us grow the program to be part of a broader pipeline from diagnosis to the search for new treatments.”
The Penelope Program is one of 12 clinical sites of the National Institutes of Health-supported Undiagnosed Disease Network (UDN). UDN is a national consortium of medical and research centers working together to improve the diagnosis and care of patients with undiagnosed diseases.
Families can apply to the University of Utah Department of Health and Pediatrics through their healthcare provider to participate in the Penelope Program.
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Research News Pediatrics Genomic Medicine Center Neonatology
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