The goal of Primary Children's Center for Personalized Medicine is to provide hope and care for every child, using the most advanced technologies in diagnosis and treatment. There are more than 7,000 known genetic diseases, many of which affect infants and children and can cause life-long disability. There are cures for only a handful of these diseases. The Center for Personalized Medicine is a multi-disciplinary team of physicians, scientists, genetic counselors, molecular biologists, bioinformaticians, staff, social workers and therapists. A true collaboration of Primary Children's Hospital, Intermountain Health; and the Department of Pediatrics, University of Utah; we are centered in Salt Lake City and provide care across a 7+ state region.

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

For children with a genetic health condition, identifying the underlying genetic cause allows children to receive personalized, targeted therapies. Getting a diagnosis and treatment quickly can greatly improve a child's prospects for leading a healthier life.

Clinical Precision Diagnosis Programs

• The Rapid Whole Genome Sequencing (rWGS) Program at Primary Children’s provides rapid and comprehensive genetic testing for hospitalized infants and children, in order to quickly identify genetic causes for children with acute health care needs. rWGS has been performed for more than 200 patients at PCH since starting in 2019. Click here to watch a video on Rapid Whole-Genome Sequencing 
• Pharmacogenomics, launched in 2022, uses specialized genetic testing to identify optimized medication selections for patients with severe heart disease, or requiring anti-coagulation.
• Each year, Primary Children’s cares for 1500 children who are struck by new seizures. Unfortunately, currently, 500 of those children will develop severe, life-long, intractable epilepsy with no curative treatments.  Genetic testing provides information on optimal treatment choices, and the potential for curative medication choice.  Every patient with childhood onset epilepsy is offered genetic testing, which identifies medicine(s) for treatment and whether surgery is an option.
• Undiagnosed and Reanalysis Patients. The UDN Clinic (known as the Penelope clinic) diagnoses children and adults with rare, unique, previously unexplained diseases. Together with a specialty clinic to re-evaluate patients who remain undiagnosed, these clinics serve to discover answers for patients and families.

New technologies are enabling children with rare genetic diseases to survive and thrive. The Center for Personalized Medicine collaborates with local and national researchers to evaluate new therapies for children with rare diseases.

Primary Children’s currently offers the following precision therapies: Zolgensma, Spinraza, Kymriah, Elevidys, Skysona, Casgevy, and Lyfgenia.

Clinical trials are ongoing for gene therapies to treat Duchenne's Muscular Dystrophy, Adrenoleukodystrophy, Zellweger Spectrum Disorder, and other serious diseases. Development is also underway for new treatments targeting diseases like Vanishing White Matter Disease, Adrenoleukodystrophy, and Congenital Disorders of Glycosylation. Clinical trials are testing stem cell use in repairing diseased hearts and other tissues, and research is focused on using immunotherapy to fight pediatric brain tumors.

We are committed to operating a collaborative and coordinated advanced center for genomic research. Our partnership affords us a unique community of doctors and researchers with unmatched knowledge and expertise to continue to discover and develop new cures. No other place can connect clinical, genetic, and familial information like the Primary Children's Center for Personalized Medicine. We offer:

• Exceptional, quality physicians and staff 
• Proprietary databases
• Unparalleled facilities 
• Perpetual resource-generation and expertise-building 
• Robust infrastructure for researchers to tap into
• Sequencing and population databases that produce the most advanced outcomes
• Teaching genetic counselors, to support the diagnostic testing.
• Conference of pediatric personalized medicine with lectures for the public and clinicians.
• Community education, with translation services.
  
   

The Center for Personalized Medicine is dedicated to training the next generation of physician- scientists and is offering a two-year fellowship in pediatric genomic medicine and gene therapy. Training occurs at the University of Utah and Primary Children's Hospital, located in Salt Lake City, Utah.

For more information: Fellowship in Pediatric Genomic Medicine and Gene Therapy | Pediatrics | U of U School of Medicine