HerediGene: Children’s Study reaches 2,500 enrollment milestone

Scarlet and Dr. Bonkowsky Photo: Courtesy of Intermountain Healthcare

SALT LAKE CITY, Utah — Intermountain Healthcare announced Monday that their HerediGene: Children’s Study, launched in 2020, has reached a milestone of 2,500 pediatric patient enrollments. The study is the world’s largest ever DNA mapping undertaken in kids. With each enrollee, researchers are given an increase in the amount of information in the study as they work to understand the causes of genetic diseases and discover targeted new treatments. The goal is to collect 50,000 DNA samples of children from newborns to 18-year-olds.

Some patients’ parents have also contributed with their children to the study. Their samples will contribute to the HerediGene Population Study; a 500,000 sought adult study.

“The involvement of so many children and families in this study is really powering progress,” said Josh Bonkowsky, MD, PhD, professor of pediatrics at University of Utah Health and Director of Primary Children’s Center for Personalized Medicine. “It shows how our community is partnering to transform discovery and opportunities for treatments for pediatric diseases.”

Family participation allows for the team of researchers at Intermountain Primary Children’s Center for Personalized Medicine the potential to improve understanding of genetic diseases in children with the hope of finding a cure.

Patients like Scarlet, a five-year-old with an undiagnosed genetic disorder that causes seizures and developmental delays, are participating in the study. Her mother, Cassandra Hill, said that Scarlett is making progress in her development, including walking and talking, with the help of experts at Primary Children’s Hospital.

“We hope Scarlet’s participation in the study will be able to help other children and help researchers determine whether she’s likely to suffer from other medical conditions due to her genetic disorder,” Hill said. “Knowledge is power.”

There are multiple ways to participate in the study, including Primary Children’s Hospital’s outpatient lab, emergency room, clinics, and inpatient units, St. George Regional Hospital, Utah Valley Hospital’s labor and delivery departments, NICU, and well-baby nurseries.

Those wishing to participate at Primary children’s Hospital can go to the Eccles Outpatient Lab, where they can provide DNA. Children can give a small amount of additional blood as part of a doctor-requested blood lab work, a swab of the cheek, or from blood drawn that occurred in the past 14 days where any remaining blood can be used in the study.

More information can be found on Intermountain’s HerediGene: Children’s study website by email or calling (833) 698-1727.