Breakthrough Gene Therapy at Primary Childrenâs Hospital helps little cowboy thrive
A rare, progressive genetic disease thatâs often fatal for infants and toddlers has been stopped its tracks by a groundbreaking gene therapy at Intermountain Primary Childrenâs Hospital.
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and last updated 2021-02-11 10:35:47-05
A rare, progressive genetic disease thatâs often fatal for infants and toddlers has been stopped its tracks by a groundbreaking gene therapy at Intermountain Primary Childrenâs Hospital.
Primary Childrenâs was one of the first in the United States to offer the gene therapy Zolgensma, used to treat spinal muscular atrophy (SMA) in children younger than 2 years.
Intermountain Healthcare announced today a massive study conducted in partnership with deCODE genetics that invites children and families to voluntarily provide DNA samples to Intermountain Primary Children’s Hospital. Through its collection of 50,000 DNA samples, “HerediGene: Children’s Study” aims to utilize the DNA of children ranging from newborns to infants to help researchers discover cures for genetic disorders and to help children with these disorders access needed treatment.
According to Dr. Joshua Bonkowsky, professor of pediatrics at the University of Utah Health and director of the Primary Children’s Center for Personalized Medicine, the study the world’s largest DNA mapping endeavor for children ever done began in December but was officially announced to the public today. He says the study will have both short-term and long-term beneficial impacts for children with genetic disorders.
Utah researchers launch worldâs largest gene-mapping study for kids, seek 50,000 volunteers
Doctors hope to find genetic markers to identify cancer, heart disease and other disorders.
(Photo courtesy of Intermountain Healthcare) Dr. John Bonkowsky, director of Intermountain Primary Childrenâs Hospitalâs Center for Personalized Medicine, is one of the researchers involved in Intermountain s HerediGene: Children s Study, the largest genetic mapping study of children ever. The study is seeking 50,000 volunteers.
  | Feb. 3, 2021, 9:40 p.m.
The largest genetic mapping study involving children is being launched in Utah, and researchers want 50,000 children and their parents to volunteer to take part.
âThe technical term, I believe, is humongous. This is huge. This is a game changer,â said Dr. Josh Bonkowsky, director of the Center for Personalized Medicine at Primary Childrenâs Hospital.