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Personalized medicine is now a reality

A new center at Primary Children's Hospital will bring next-generation care to children today, using advanced technologies to understand a child’s unique genetic makeup and offer tailored treatments.

Intermountain Primary Children’s Hospital, University of Utah Health and Intermountain Precision Genomics are launching an exciting new program to improve health care for children throughout the Intermountain West—a Center for Personalized Medicine that will bring next-generation care to children today, using advanced technologies to understand a child’s unique genetic makeup and offer tailored treatments.

The Primary Children’s Center for Personalized Medicine is the first of its kind in the Intermountain West. The center is using cutting-edge genetic technologies and precision treatments to transform clinical care. With these advancements, targeted treatments that were not available a few years ago are helping children with some of the most challenging medical conditions to survive and thrive.

The collaborative initiative is located at Primary Children’s Hospital and has received startup funding from the Intermountain Foundation at Primary Children’s.

“The Primary Children’s Center for Personalized Medicine is founded on our belief that every child deserves the most advanced care possible,” said Dustin Lipson, Intermountain Primary Children’s Hospital Administrator. “This center has been made possible because of the technologies of Intermountain Precision Genomics, and the synergies created by the open, collaborative environment between Primary Children’s Hospital and University of Utah Health.”

There are more than 7,000 known genetic diseases, many of which affect infants and children and can cause lifelong disability. There are cures for only a handful of these diseases, and in some cases, the diseases can even lead to early death, said Josh Bonkowsky, medical director of the Primary Children’s Center for Personalized Medicine.

The goal of the Primary Children’s Center for Personalized Medicine is to transform this critical need for treatments through research, discovery and innovative therapies.

Access to a wealth of clinical, genetic and familial data housed at Intermountain Healthcare and University of Utah Health gives the center a unique advantage. By combining these one-of-a-kind resources with decades of research in Utah, the center is poised to forge new connections between genetics and human disease and apply those discoveries to benefit children worldwide.

“The Primary Children’s Center for Personalized Medicine is poised to become one of the most genetically informed centers in the world,” said Lincoln Nadauld, chief of Intermountain Precision Genomics. “The partnership will ensure that children receive the most cutting-edge care available anywhere.”

The new Center for Personalized Medicine is focused on three areas:

Precision diagnosis

  • Allows critically ill children to receive personalized, targeted therapies based on their genetic make-up.
  • State-of-the-art technology and rapid whole-genome sequencing quickly identifies genetic causes of hard-to-diagnose diseases.
  • Getting a diagnosis and treatment quickly greatly improves a child’s prospects for leading a healthier life.
  • Initial efforts are focused on providing answers for critically ill infants in the newborn intensive care unit, and children with severe seizures and heart conditions.

Gene therapies and novel therapeutics

  • Enable children with previously debilitating and fatal genetic diseases to survive and thrive.
  • Primary Children’s is one of only six hospitals nationwide to provide gene therapy for spinal muscular atrophy, one of the most common childhood genetic conditions.
  • Clinical trials are testing gene therapy treatments for Duchenne’s muscular dystrophy, adrenoleukodystrophy and other serious diseases.
  • Development is underway for novel therapeutics that target specific diseases and improve health.

Stem cell, immunologic and regenerative medicine

  • Uses a child’s own cells, or genetically modifies a child’s cells and immune system, to fight disease and promote healing.
  • Clinical trials are testing the use of stem cells in repairing diseased hearts and other tissues. Research is aimed at developing immunotherapy as a tool to fight pediatric brain tumors.

Advances like these are changing the lives of people like Evie Lewis of Ogden, Utah, and her family.

Lewis was born with a severe genetic disease, Type 1 spinal muscular atrophy (SMA), that is nearly always fatal before the age of 2. But a molecular treatment she receives at Primary Children’s Hospital and University of Utah Health appears to have halted progression of the disease. Today, at 2 ½ years old, Lewis likes to climb, play with her toys and read books—seemingly typical development for a toddler that’s nothing short of a miracle for the Lewis family.

A few years ago, before this breakthrough treatment existed, Lewis’ older sister, Blakely, died of the same disease.

“Our mission is to leverage the expertise of our scientists, the clinical care of our physicians and care-givers and the dedication of our community, to discover and develop new cures for children,” Bonkowsky said. “The work we are doing here and now is transforming pediatric medicine.  We will not be done until we have put these diseases out of business.”

Information about the center is available at Medicine.