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Groundbreaking Genomics Study Enrollment Milestone at Intermountain Primary Childrens Hospital

Intermountain Healthcares groundbreaking HerediGene: Childrens Study reaches 2,500 enrollment milestone.

Intermountain Healthcares groundbreaking HerediGene: Childrens Study the worlds largest DNA mapping effort ever to be undertaken in kids has already reached a milestone of 2,500 enrollments.

The upsurge in children taking part in this pioneering study gives researchers more info to understand the sources of genetic diseases and find out treatments to greatly help children thrive.

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

Launched in late 2020 by Intermountain Healthcare scientists, the HerediGene: Childrens Study, aims to get 50,000 DNA examples of children, newborn to 18 yrs . old, to greatly help them access future treatments and possible cures for genetic disorders, predicated on their particular DNA.

The two 2,500 patients signed up for the analysis includes both pediatric patients and parents who participated making use of their children. The adult samples will ultimately donate to the 500,000 adults sought to take part in the HerediGene: Population Study.

Family participation in the analysis adds genetic information to greatly help researchers at the Intermountain Primary Childrens Center for Personalized Medicine, in collaboration with pediatric physicians and scientists from University of Utah Health, and Intermountain Precision Genomics better understand genetic diseases in children, including five-year-old Scarlet.

Scarlet comes with an undiagnosed genetic disorder that triggers developmental delays and seizures, said her mother, Cassandra Hill. Scarlet is making great strides in her development, including understanding how to walk and talk, by using experts at Primary Childrens Hospital, and she loves school.

Hill says Scarlet is taking part in the study to greatly help children like her access treatments later on.

Hopefully Scarlets participation in the analysis can help other children, and help researchers determine whether shes more likely to have problems with other medical ailments because of her genetic disorder, Hill said. Knowledge is power.

During the last 18 months, enrollment in the analysis is continuing to grow, and new ways have already been developed for children to participate at Primary Childrens Hospitals outpatient lab, er, clinics, and inpatient units; in addition to at St. George Regional Hospital and Utah Valley Hospitals labor and delivery departments, NICU, and well-baby nurseries.

Children dont need to be Primary Childrens Hospital patients to take part in the study, no appointment is essential.

Families are invited to come quickly to the Eccles Outpatient Lab at Primary Childrens Hospital where their children can offer DNA samples in another of 3 ways:

  1. In case a doctor has requested blood lab work, the kid can participate giving handful of additional blood.
  2. In case a child isnt having lab work done, they are able to participate with a straightforward cheek swab or giving handful of blood.
  3. In case a child has already established blood drawn within days gone by 14 days, any remaining blood from tests can be utilized toward the analysis.

To find out more on Intermountains HerediGene: Childrens study, please visit, email, or call (833) 698-1727.

About Intermountain Healthcare

Located in Utah with locations in seven states and extra operations over the western U.S., Intermountain Healthcare is really a nonprofit system of 33 hospitals, 385 clinics, medical groups with some 3,800 employed physicians and advanced practice providers, a health plans division with an increase of than one million members called SelectHealth, along with other health services. Helping people live the healthiest lives possible, Intermountain is focused on improving community health insurance and is more popular as a leader in transforming healthcare through the use of evidence-based guidelines to consistently deliver high-quality outcomes at sustainable costs. To find out more, see Intermountain Healthcare.

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