Cincinnati Children’s Hospital Medical Center receives multi million dollar award to support newborn screening data resource.

Cincinnati Children’s Hospital Medical Center is receiving a $2.2 million award to develop and maintain a sophisticated national data resource. The Longitudinal Pediatric Data Resource (LPDR) will be used by researchers to pilot new technologies and treatments, while tracking health outcomes over the lifespan of children who screen positive for a large number of rare and often devastating genetic disorders. The LPDR will enable more extensive research studies by collecting information on many more children with rare pediatric disorders across the nation.

The medical center’s Division of Biomedical Informatics is receiving the funds as a part of the Newborn Screening Translational Research Network (NBSTRN), an ongoing effort funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. This effort is led by the American College of Medical Genetics and Genomics (ACMG).

Biomedical informatics researchers at Cincinnati Children’s will use the medical center’s extensive computing, data processing, and software development capabilities to develop the LPDR database. The resource will include a web-based interface for data querying and exploration that will be made available to physicians and researchers nationwide. The LPDR will allow researchers to compare, quantify and establish identifiable patterns between specific clinical data from patients and molecular, genetic and genomic information that could help explain and better treat their respective medical conditions.

“NBSTRN is pleased to be able to continue our collaboration with Dr. White and his team at Cincinnati Children’s,” said Michael Watson, PhD, project director for the NBSTRN Coordinating Center.  “Their broad experience in supporting multi-institutional research of this type will continue to be an asset in ensuring that our infrastructure and resources remain compatible with other big data projects.”

“A large number of serious diseases of newborns can potentially be identified through existing newborn screening programs,” said project leader Peter S. White, PhD, director of the Division of Biomedical Informatics at Cincinnati Children’s. “In a growing number of these disorders, early detection provides the opportunity for improving the lives of these children. The LPDR will fast-track research on these diseases by collecting much larger sets of patients, and following patient outcomes over time. This includes critical genomic data that can help identify mechanisms of disease, as well as novel intervention strategies.”   

Among the still-growing list of diseases included in the project are lysosomal storage disorders, studies of inborn errors of metabolism, and testing of severe combined immunodeficiency disorders. The Cincinnati team will extend this effort to include many additional diseases, along with genomic data derived from DNA sequence-based tests. For the genomics work, White’s group, which includes informatics co-investigator Michael Wagner, PhD, will be working closely with the NIH-sponsored Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program.

Researchers accessing the LPDR will be able to apply the combined screening and follow-up data to address a number of current challenges, including the development and assessment of new methods for improving early disease identification, identifying new candidate diseases for newborn screening, and determining the effectiveness of current treatments and long-term outcomes for screened disorders. The central resource is designed to encourage collaboration among researchers and rapid dissemination of information across the pediatric disease research community.