Nicklaus Children’s Hospital Biobank at research milestone
The Nicklaus Children’s Hospital Biobank has reached a significant milestone in enrolling its 500th participant.
Founded in 2019 to address imbalances in genomic research, the biobank’s goal is to enhance individualized care for children in South Florida and to harness the latest developments in genomic science to speed effective treatments for pediatric conditions, while optimizing benefits and minimizing side effects.
“Biobanking is key in generating biomedical research and improved medical care. This is going to give physicians and patients the ability to receive powerful, actionable insight into navigating medical care,” said Paula Espinal, the hospital’s principal investigator. “We want to make sure that within the development of new drugs and other technologies, the genomic makeup of individuals in our community is very much taken into consideration.”
Doctors diagnose genetic disorders in patients by comparing their DNA to “reference genomes,” based on the pooling of genomes that have already been sequenced. Currently, most participants in genomic research are of European descent, with Black, Hispanic, and Latino populations vastly underrepresented. In a multi-ethnic community like South Florida, this presents a challenge in applying genomics to patient care, explained Dr. Espinal, who is also the manager of the Personalized Medicine Research Program.
The biobank was founded to help address this gap through a $7 million donation from Sanford Health. The biobank will continue to collect samples from diverse participants representing South Florida and, more broadly, the growing diversity of the US.
Children are underrepresented in existing biobanks around the country and the world. Understanding genetic variants and disease patterns in children will advance personalized medicine to better serve young patients, according to Nicklaus Children’s medical officials. The hospital made a giant leap in the genomic revolution in medical care in 2018, becoming the first pediatric hospital in the Southeast to implement personalized medicine at the bedside with the founding of its Personalized Medicine Initiative.
Other highlights of the program include research that has validated benefits of whole-genome sequencing and rapid whole-genome sequencing to support the care of children with undiagnosed genetic disorders.
Since its opening, the biobank has collaborated with leading US research entities including the Centers for Disease Control and Boston Children’s Hospital to better understand the link between Covid-19 and multisystem inflammatory disorder in children and to assess why children are less often affected by the virus, while children suffering from influenza often suffer severe pediatric illness, Dr. Espinal said.
“The success of population-based studies depends on the willingness of large numbers of diverse individuals to grant researchers access to detailed medical and genetic information,” she said. “The goal of the Nicklaus Children’s Biobank is to encourage and facilitate focused research in the pathogenesis, diagnosis, and treatment of patients in our diverse South Florida community.”