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Children’s genomic consortium studies immune-weakened kids

Ten hospitals in the Sanford Children’s Genomic Medicine Consortium are participating in whole genome sequencing research of patients with suspected inborn errors of immunity (IEI). The research is being led by Elena Hsieh, M.D., and Cullen Dutmer, M.D., pediatric immunologists from Children’s Hospital Colorado (Children’s Colorado).
Sanford Health granted Principal Investigators Dr. Hsieh and Dr. Dutmer $250,000 in seed funding to investigate up to 25 patient genomes. The Consortium will sequence the genomes of undiagnosed  children with suspicion of an IEI. 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 Dr. 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 IEI, 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 inborn errors of immunity and offer new options to more people,” says Dr. Hsieh, who is also an associate 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 Dr. 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.

Posted In Children’s, Genetics, Research

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