UT Health San Antonio contributes rare dataset to Kids First pediatric research initiative

In the study of uncommon congenital disorders, collaboration is key to potential new insights and discoveries. The Gabriella Miller Kids First Pediatric Research Program Data Resource Center announced in September the public release of three comprehensive datasets related to childhood cancers and congenital disorders, one of which was provided by The University of Texas Health Science Center at San Antonio (UT Health San Antonio).

UT Health San Antonio is home to the Chromosome 18 Clinical Research Center, the world's only center dedicated specifically to the study of chromosome 18 conditions. For the past three decades, Center Director Jannine Cody, PhD, professor in the Department of Pediatrics, Joe R. and Teresa Lozano Long School of Medicine, has headed a lifetime longitudinal study of people with chromosome 18 conditions.

While there are more than 700 participants in the longitudinal study, for the Kids First dataset, the scope was narrowed to a smaller set with chromosome deletions and structural birth defects. Co-investigators on Cody's team include Jonathan Gelfond, MD, PhD, associate professor in the Department of Population Health Sciences, and Santhosh Girirajan of The Pennsylvania State University.

About three years ago, Cody and her team joined with Kids First, a program funded by the National Institutes of Health Common Fund. The program enrolls cohorts with different birth defects, conducts whole genome sequencing and gathers data on physical characteristics and manifestations of phenotypes.

Researchers with UT Health San Antonio contributed a dataset with extensive phenotypic and genetic information about approximately 150 study participants.

DNA was gathered and a whole genome sequence was conducted at the Broad Institute of Harvard University and the Massachusetts Institute of Technology. Cody said they are currently working with bioinformaticians at Penn State to analyze the data.

"We're trying to improve life for people with chromosome 18 conditions through determining the best standards of care and understanding what their physical, developmental and medical issues are," Cody said.

There are five types of chromosome 18 conditions with countless variations depending on what portions of the chromosomes are missing or have extra pieces. The most common of these conditions is trisomy 18.

Cody said their cohort is quite unique from others in the Kids First program in that there is not only one birth defect related to this condition. In fact, her 150-person cohort includes more than a dozen different structural birth defects.

Along with determining the best standards of care, Cody and her team study the genetics of chromosome 18 conditions and develop novel approaches through better understanding of the genes involved.

Including this newly released data, the program's data resource center now has more than 188,000 data records on childhood cancers and congenital disorders. This centralized repository of information is free and accessible to scientists and researchers worldwide.

"In a way, it's opening it up for new ideas from other people. [Scientists] can go in there and look at the phenotype data, genotype data, and maybe there are people out there who have novel ideas - methods we don't have - and find something we never thought about," Cody said.

This data may help Cody's team identify additional information about birth defects related to these disorders, she said. For instance, only two individuals in this cohort have a complex condition called tetralogy of Fallot, which is a congenital heart defect with four changes that do not allow blood to flow normally. Future research may focus on features of other genes on chromosome 18 or combinations of this gene deletion and a gene mutation elsewhere.

"We think there is a great deal of possibilities for new discoveries, and we are excited to add to the discoveries coming out of the Kids First program," Cody said.

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