This post originally appeared here.
Imagine having a newborn baby who is not doing well. Instead of moving its hands and legs spontaneously, it is inert, like a rag doll in your arms. She has trouble breathing on her own and feeding herself.
Imagine a 6-year-old who until recently was doing well in first grade. But now he has seizures, can’t walk, has trouble thinking clearly, and is falling behind other kids in his class.
Now imagine being the parent of one of these children and taking them from doctor to doctor trying unsuccessfully to figure out what is wrong. There probably aren’t enough synonyms in a thesaurus to describe how you would feel.
In an effort to end these diagnostic searches 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 investigations. programs in the Center for Genomic Medicine (CGM) at Utah Health University.
The gift will allow the Utah NeoSeq Project Y Penelope Program to expand and refine your testing and diagnostic efforts. NeoSeq uses rapid whole genome sequencing (rWGS), state-of-the-art computational analysis, and medical and scientific expertise to rapidly diagnose genetic diseases in critically ill newborns. The Penelope Program applies those same innovative approaches to children with rare and undiagnosed diseases,
“We are excited to be a part of this extraordinary program,” say Mark and Kathie Miller. “We are confident that it will become a resource and a model for the entire country.”
People who would like to join the Millers in supporting the NeoSeq and/or Penelope programs can contact Steven Finkelstein here.
Transforming Neonatal Care and Diagnosis
About one in four newborns treated in neonatal intensive care units (NICUs) are suspected of having some kind of genetic disorder, it says. sabrina malone-jenkins, U of U Health neonatologist and principal investigator for NeoSeq.
A handful of NICUs in the US, including at U of U Health, are now looking for genetic causes of disease in these babies by reading or sequencing the three billion letters of DNA that make up the human genome.
In the past, it could take weeks, months, or even years of manual and computational analysis to diagnose a disease. Often the causes were not determined. Neonatal doctors say the crucial time gap needs to be narrowed dramatically so they can start providing the right care as soon as possible.
To address this shortfall, CGM researchers collaborated with ARUP Laboratories to establish the Utah NeoSeq Project in 2020. In some cases, this program can provide a genetic diagnosis to NICU patients in less than a week. Since it began, NeoSeq has diagnosed about 35% of its patients, based on genetic analysis of blood samples from 55 babies and their parents.
“This is life-changing research for our patients and their families,” says Malone Jenkins. “It allows the care team to identify what is wrong with the baby and personalize any treatment that may be offered. It also offers some clarity to a family that helps them understand why their baby is so sick and why they are in the NICU. It gives families and caregivers a roadmap of what they can potentially expect in the future.”
Malone Jenkins believes support from the Miller Fund will enable NeoSeq to screen more babies in the NICU and enable researchers to perform more extensive genomic sequencing, leading to better detection of rare genetic disorders.
“We are very excited and grateful for the generosity and support of the Miller family,” says Malone Jenkins.
Solving the Most Complex Pediatric Cases
The Penelope Program benefits children with serious and complex conditions that remain undiagnosed despite multiple evaluations.
Children are carefully examined and evaluated by a multidisciplinary team of physicians and researchers from the University of Utah, looking for clinical clues and changes in their DNA that may reveal a diagnosis. Their efforts also leverage the expertise of key partners from ARUP Laboratories and the Utah Center for Genetic Discoveryrecognized for developing innovative genomic analysis tools.
Since its founding in 2016, the Penelope Program has evaluated 119 families and identified several genes associated with rare diseases, including neurological diseases and bone disorders. Nearly 50% of Penelope’s patients have received a diagnosis.
“After everything they’ve been through, families often come expecting us to tell them we didn’t find anything,” he says. lorenzo low, the principal investigator of the Penelope Program and a professor of pediatrics at U of U Health. “When we find a diagnosis, it takes a huge weight off their shoulders. But when we don’t find a diagnosis, we don’t give up, we stay with the families because there is hope.”
With a firm diagnosis, doctors can improve your care by avoiding redundant tests or exams; families can connect with other families with the same condition and find a “home” and researchers can work to find better treatments.
Importantly, by combining the team’s expertise with advanced genomics, the typical diagnostic odyssey that can take years can be dramatically shortened, 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 wonderful gift to families and to science,” says Botto. “It will help grow the program so that it becomes part of a larger pipeline that goes from diagnosis to finding new treatments.”
The Penelope Program is one of a dozen clinical sites on the Undiagnosed Diseases Network (UDN) supported by the National Institutes of Health. 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 participate in the Penelope Program through their health care providers to University of Utah Health Pediatrics.