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Sanford Children’s Genomic Medicine Consortium Sequences Genomes in Immune-Compromised Children

Grant allows researchers to investigate undiagnosed illnesses

Ten hospitals in the Sanford Children’s Genomic Medicine Consortium are participating in genome sequencing research of patients who have primary immune deficiency diseases (PIDD) or primary immune regulatory disorders (PIRD). The research is being led by Elena Hsieh, MD, and Cullen Dutmer, MD, pediatric immunologists from Children’s Hospital Colorado (Children’s Colorado).

Sanford Health granted Principal Investigators, Hsieh and Dutmer, $250,000 in seed funding to investigate up to 25 patient genomes. The Consortium will sequence the genomes of undiagnosable children. They will study their DNA and learn information that will hopefully benefit the patient and others.

“It’s heartbreaking when a patient has lived their entire life with an unknown illness,” said Dutmer, who is the medical director of Clinical Immunology at Children’s Colorado and an assistant professor of pediatrics at the University of Colorado School of Medicine on the Anschutz Medical Campus. “We hope to help several patients, but even if we help just one patient, it will be a monumental success.”

Rady Children’s Institute for Genomic Medicine®  was selected to sequence the genomes for this research study because of its unique ability to perform whole genome sequencing quickly and accurately.

The goal of the study is to take patients who have an undiagnosed and very rare illness, apply whole genome sequencing, and ideally, to diagnose an existent or discover a novel PIDD/PIRD, then put them on an individualized treatment plan. While this is the hope, other results, such as discovering a novel disease, could also come from this program.

“Research collaborations like this one help expand our current knowledge of primary immunodeficiency disorders and offer new options to more people,” says Hsieh, who is also an assistant professor of pediatrics at CU Anschutz.

Hospitals participating in the study include American Family Children’s Hospital: UW Health, Banner Children’s at Diamond Children’s Medical Center, Children’s Hospital Colorado, Children’s Hospital of Los Angeles, Children’s Minnesota, Lucile Packard Children’s Hospital Stanford, Nicklaus Children’s Hospital, Rady Children’s Institute for Genomic Medicine and Rady Children’s Hospital (San Diego), Sanford Children’s and Seattle Children’s Hospital.

“The work being done is about hope – hope for the patients and for their families,” said Gene Hoyme, medical director of Sanford Children’s Genomic Consortium. “The consortium is a testament to the dedication of the talented people from across the country who are working together to make a significant, lasting impact in the lives of children.

About Sanford Health

Sanford Health is an integrated health system headquartered in the Dakotas. It is one of the largest health systems in the nation with 45 hospitals and nearly 289 clinics in nine states and four countries. Sanford Health’s 28,000 employees, including 1,400 physicians, make it the largest employer in the Dakotas. Nearly $1 billion in gifts from philanthropist Denny Sanford have allowed for several initiatives, including global children’s clinics, genomic medicine and specialized centers researching cures for type 1 diabetes, breast cancer and other diseases. For more information, visit sanfordhealth.org.

About Children’s Hospital Colorado

Children’s Hospital Colorado is one of the nation’s leading and most expansive pediatric healthcare systems with a mission to improve the health of children through patient care, education, research and advocacy. Founded in 1908 and recognized as a top ten children’s hospital by U.S. News & World Report, Children’s Colorado has established itself as a pioneer in the discovery of innovative and groundbreaking treatments that are shaping the future of pediatric healthcare worldwide. Children’s Colorado offers a full spectrum of family-centered care at its urgent, emergency and specialty care locations throughout Colorado, including its location on the Anschutz Medical Campus, and across the region. In 2019, Children’s Hospital Colorado, Colorado Springs, opened as the first pediatric-only hospital in southern Colorado. For more information, visit www.childrenscolorado.org, or connect with us on Facebook and Twitter.

About Rady Children’s Institute for Genomic Medicine®

Rady Children’s Institute for Genomic Medicine® is transforming neonatal and pediatric healthcare by harnessing the power of Rapid Precision Medicine™ to improve the lives of children and families facing rare genetic disease. Founded by Rady Children’s Hospital and Health Center, the Institute offers the fastest delivery of rapid Whole Genome Sequencing™ to enable prompt diagnosis and targeted treatment of critically ill newborns and children in intensive care. The Institute now provides clinical genomic diagnostic services for a growing network of more than 70 children’s hospitals. The vision is for this life-changing technology to become standard of care and enable clinicians nationwide to provide rapid, personalized care. Learn more about the non-profit Institute at www.RadyGenomics.org. Follow us on Twitter and LinkedIn.

About Rady Children’s Hospital-San Diego

Rady Children’s Hospital-San Diego is a 505-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, southern Riverside and Imperial counties. Rady Children’s is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare and is the regions only designated pediatric trauma center. In June 2021, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in all ten pediatric specialties the magazine surveyed. Rady Children’s is a nonprofit organization that relies on donations to support its mission. For more information, visit www.rchsd.org and find us on FacebookTwitter and Vimeo.

About Children’s Hospital of Los Angeles

Children’s Hospital Los Angeles has been named the best children’s hospital in California and among the top 10 in the nation for clinical excellence with its selection to the prestigious U.S. News & World Report Honor Roll. Children’s Hospital is home to The Saban Research Institute, one of the largest and most productive pediatric research facilities in the United States. Children’s Hospital is also one of America’s premier teaching hospitals through its affiliation since 1932 with the Keck School of Medicine of the University of Southern California. For more information, visit CHLA.org. Follow us on Twitter, Facebook, YouTube and LinkedIn, or visit our blog at researchlablog.org.

About Children’s Hospitals and Clinics of Minnesota

Children’s Minnesota is one of the largest pediatric health systems in the United States and the only health system in Minnesota to provide care exclusively to children, from before birth through young adulthood. An independent and not-for-profit system since 1924, Children’s Minnesota serves kids throughout the Upper Midwest at two free-standing hospitals, 12 primary and specialty-care clinics and six rehabilitation sites. Children’s Minnesota maintains its longstanding commitment to the community to improve children’s health by providing high-quality, family-centered pediatric services and advancing those efforts through research and education. This work is made possible in large part by generous philanthropic and volunteer support from individuals and organizations throughout the state and region. An award-winning health system, Children’s Minnesota is regularly ranked by U.S. News & World Report as a top children’s hospital and by The Leapfrog Group for quality and efficiency. Please visit childrensMN.org.

About Banner Children’s at Diamond Children’s Medical Center

Banner Children’s at Diamond Children’s Medical Center provides pediatric care for children, from newborns to teens. Services include emergency care, heart disorders, traumatic brain injury, autism and developmental disorders, cancer, diabetes and endocrinology, gastrointestinal and nutritional disorders, neurological problems, orthopedics, intensive care needs and more. It is the only pediatric medical facility in Arizona connected to an academic research facility — the University of Arizona Steele Children’s Research Center — where physician-scientists conduct groundbreaking basic science and translational research to advance children’s health. For more information, visit www.BannerChildrens.com/DiamondChildrens

About the University of Arizona Health Sciences

The University of Arizona Health Sciences is the statewide leader in biomedical research and health professions training. The UA Health Sciences includes the UA Colleges of Medicine (Phoenix and Tucson), Nursing, Pharmacy and Mel and Enid Zuckerman College of Public Health, with main campus locations in Tucson and the growing Phoenix Biomedical Campus in downtown Phoenix. From these vantage points, the UA Health Sciences reaches across the state of Arizona and the greater Southwest to provide cutting-edge health education, research, patient care and community outreach services. A major economic engine, the UA Health Sciences employs almost 5,000 people, has nearly 1,000 faculty members and garners more than $126 million in research grants and contracts annually. For more information: uahs.arizona.edu