Le Bonheur Biorespository and UTHSC BIG to Sequence 25,000 DNA Specimens

As research into genetic causes of disease began to grow, Le Bonheur Pediatrician-in- Chief Jon McCullers, MD, knew it was time to start building a pediatric DNA biorepository. So in 2015, Le Bonheur’s Children’s Foundation Research Institute (CFRI) created the Biorepository and Integrative Genomics (BIG) Initiative and began collecting DNA samples from hospitalized children at Le Bonheur with the consent of their parents. “We knew then that changes in genes impact health and cause disease.”

We began collecting DNA samples in the hope that at some point we would be able to sequence the DNA and use it for research,” said McCullers. Five years and more than 10,000 DNA samples later, this dream is becoming a reality. Le Bonheur and the University of Tennessee Health Science Center (UTHSC) recently signed an agreement with a leading biotechnology company to obtain genetic information from 25,000 DNA samples in the next five years with the option to increase that number to 100,000.

Le Bonheur’s biorepository is one of only a handful in the country devoted to pediatrics. Forty-five percent of the biorepository samples are from African-American children — a unique feature compared to other pediatric biorepositories in the country. BIG collects leftover samples that would otherwise be thrown out from Le Bonheur patients in the inpatient, outpatient, and Emergency Department settings. Appropriate consent is obtained and education provided for parents and caregivers to understand how their child’s sample will be used to contribute to the future of medicine.

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