Researchers conduct genome sequencing studies in children with in-born immunity disorders

The Sanford Children’s Genomic Medicine Consortium has ten hospitals collaborating for whole genome sequencing studies on patients with suspected inborn immunity disorders (IEI). Elena Hsieh MD, and Cullen Dutmer MD, pediatric immunologists at Children’s Hospital Colorado (Children’s Colorado), are leading the study.

Sanford Health provided $250,000 in seed funding to principal investigators Hsieh and Dutmer to analyze up to 25 patient genomes. The project will sequence the genomes of children who have not been tested but are suspected of having an IEI. Researchers will examine their DNA to gain knowledge that will help the patient and others.

It’s heartbreaking when a patient has lived their entire life with an unknown illness. We hope to help several patients, but even if we help just one patient, it will be a monumental success.”

Cullen Dutmer, Medical Director, Clinical Immunology, Children’s Hospital Colorado

Dutmer is also an assistant professor of pediatrics at the University of Colorado School Of Medicine on the Anschutz Medical Campus.

Having a remarkable ability to do whole genome sequencing rapidly and precisely, Rady Children’s Institute for Genomic Medicine® was chosen to sequence the genomes for this research investigation.

The study’s purpose is to use whole genome sequencing to identify or uncover a new IEI in individuals who have an unidentified and extremely rare ailment and then place them on a tailored treatment regimen. Although this is the aim, alternative outcomes, such as the discovery of a new disease, may also be possible as a result of this study.

Research collaborations like this one help expand our current knowledge of inborn errors of immunity and offer new options to more people.”

Hsieh, Associate Professor, Pediatrics, Anschutz Medical Campus, University of Colorado School of Medicine

Hospitals participating in the research include American Family Children’s Hospital: UW Health, Children’s Minnesota, Children’s Hospital Colorado, Lucile Packard Children’s Hospital Stanford, Children’s Hospital of Los Angeles.

Nicklaus Children’s Hospital, Rady Children’s Institute for Genomic Medicine and Rady Children’s Hospital (San Diego), Banner Children’s at Diamond Children’s Medical Center, Sanford Children’s, and Seattle Children’s Hospital also participated in the study

The work being done is about hope—hope for the patients and for their families. 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.”

Gene Hoyme, Medical Director, Sanford Children’s Genomic Consortium