Center for Personalized Medicine

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 collaborative initiative, of Primary Children's Hospital, University of Utah Health, and Intermountain Precision Genomics and is the first of its kind in the Intermountain West. The mission of Primary Children’s Center for Personalized Medicine is to transform this critical need for treatments through research, discovery, and innovative therapies.

Our current programs include:

Precision Diagnosis Programs

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 improves 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.

Research Precision Diagnosis Programs

Heredigene Children’s Study. In partnership with Intermountain Precision Genomics, we are leading a large study of pediatric genomics, to enroll more than 50,000 children. This effort is poised to transform pediatric medicine for the 21^st century. 

Gene Therapies and Novel Therapeutics

New technologies in treating rare diseases are enabling children with previously debilitating and fatal genetic diseases to survive and thrive. Given the exciting advances in this area, The Center for Personalized Medicine has established a Genetic Therapy Group, that collaborates with local and national researchers and specialists for ongoing evaluation of the availability of therapies for children with rare disease.

Current Gene Therapy and Novel Therapeutics Programs

• Primary Children's, in collaboration with the Utah Program for Inherited Neuromuscular Disorders (UPIN), provides 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 are developing a new gene therapy for Zellweger Spectrum Disorder, and other serious diseases.
• Development is underway for novel therapeutics that target specific diseases and improve health, including for Vanishing White Matter Disease, Adrenoleukodystrophy, Congenital Disorders of Glycosylation, and other severe conditions.

Cellular and Regenerative Medicine

This technology uses a child's own cells, or genetically modifies a child's cells and immune system, to fight disease and promote healing, like CAR-T therapies in the oncology clinic.

Current Cellular and Regenerative Medicine Programs

• 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.

The Center for Personalized Medicine is dedicated to training the next generation of physician- scientists in this work. For more information, or to apply to the position, contact David Viskochil David.viskochil@hsc.utah.edu and Josh Bonkowsky Joshua.bonkowsky@hsc.utah.edu

Neuro Fellowship Programs - U of U School of Medicine - | University of Utah

We are doctors, researchers, administrators and staff, many of whom are also parents. We believe that every child deserves to get the most advanced care and we define success by knowing that our work is never done - we will never stop pursuing new therapies and new cures. 

Primary Children's Center for Personalized Medicine is founded on our belief that every child deserves to get the most advanced care possible. This collaborative initiative between Primary Children's Hospital, University of Utah Health, and Intermountain Precision Genomics is the first of its kind in the Intermountain West. Our team includes physicians, researchers, genetic counselors and staff who are recognized for their expertise and are using cutting-edge genetic technologies to understand a child's unique genetic makeup and offer tailored treatments. Our mission is to deliver personalized, precise, leading-edge care for kids by developing treatments and cures for complex and rare diseases, in partnership with our many centers of care, like Heart, Cancer, and Brain & Spine.

Josh Bonkowsky, MD, PhD
Medical Director
joshua.bonkowsky@hsc.utah.edu

Seth Andrews
Administrative Director
seth.andrews@imail.org

Rachel Palmquist, CGC
Director, Precision Diagnostic Sciences
Rachel.palmquist@hsc.utah.edu

Sabrina Malone-Jenkins, MD
Director, Rapid Genomics
Sabrina.malonejenkins@hsc.utah.edu