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World’s largest pediatric DNA mapping effort launched at Intermountain Primary Children’s Hospital

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Families and children are invited to participate in the groundbreaking HerediGene: Children’s Study – the world’s largest DNA mapping effort ever to be undertaken in kids.  

The HerediGene: Children’s Study will involve the voluntary collection of 50,000 DNA samples of children as young as newborns, as well as their parents and siblings who wish to participate, at Intermountain Primary Children’s Hospital.  

The population study aims to help children access future treatments and possible cures for genetic disorders, based on their unique DNA.  

Information from the study will be used to help researchers at the Primary Children’s Center for Personalized Medicine and Intermountain Precision Genomics to better understand genetic diseases, which can be devastating and often, fatal, in children, and research new ways to treat them.  

The Center for Personalized Medicine is a collaboration between Primary Children’s Hospital, Intermountain Precision Genomics and pediatric specialists and researchers at University of Utah Health.  

“This effort represents the largest population study of pediatric genetics and disease in the world,” said Dustin Lipson, Administrator, Primary Children’s Hospital. “Results will inform and transform genetic research and applied genomic medicine at Primary Children’s Hospital and across the U.S. for years to come.” 

This new, innovative children’s study is part of HerediGene: Population Study, a major global initiative led by Intermountain Precision Genomics, to collect samples from 500,000 participants and discover new connections between genetics and human disease.  

“The HerediGene: Children’s Study is a transformative opportunity,” said Josh Bonkowsky, professor of Pediatrics at University of Utah Health and director of Primary Children’s Center for Personalized Medicine. “Discoveries from the Children’s Study can be combined with extensive clinical data at Intermountain Healthcare and research insights from University of Utah Health. With this comprehensive approach, the genetic determinants leading to disease can be tackled, and novel and unexpected disease causes, and potentials for cures, can emerge.” 

In June of 2019, Intermountain Healthcare and deCODE genetics announced a collaboration on the initiative representing the largest and most comprehensive DNA mapping effort in the United States from a single population.

“There has never been a children’s study of this breadth and depth from a single institution. This tremendous undertaking is groundbreaking, innovative, and represents the most cuttingedge science underway in medicine today. The HerediGene: Children’s Study will transform our ability to diagnose and even prevent future diseases in children and families, representing the most compassionate application of precision medicine today,” said Lincoln Nadauld, MD, PhD, oncologist and vice president and chief of precision health and academics at Intermountain Healthcare. 

As with the HerediGene: Population Study, Intermountain teams will work with deCODE genetics to map the genomes of participants by collecting a sample of blood. In children, the sample size is small, less than one teaspoon. Like the adult population study, the children’s study is voluntary and free to participants. Children and their family members do not have to be patients at Primary Children’s Hospital.  

Participants in the study and their medical information will be de-identified to ensure anonymity before it is utilized in research to help medical professionals better understand the human genome. A small percentage of participants, including children, will have the option to receive their genetic results report if a clinically significant gene mutation is identified. 

For more information on additional study locations or to learn more about the HerediGene: Population Study, visit intermountainhealthcare.org/heredigene. 

This story contain sponsored content.  

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