Peter White, PhD.

Peter White, PhD

Marc Rothenberg, MD, PhD.

Marc Rothenberg, MD, PhD

Cincinnati Children’s will use a $2.2 million award to create a database that scientists worldwide can use to learn more about the long-term health outcomes of children with a wide variety of rare genetic disorders.

The Longitudinal Pediatric Data Resource (LPDR) is funded through the Newborn Screening Translational Research Network, an ongoing project of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. The database will be built by members of the Cincinnati Children’s Division of Biomedical Informatics.

The resource will allow researchers to search for patterns between clinical patient data and libraries of molecular, genetic and genomic information. Diseases to be tracked include lysosomal storage disorders, inborn errors of metabolism, and severe combined immunodeficiency disorders.

“A large number of serious diseases of newborns can potentially be identified through existing newborn screening programs,” says project leader Peter White, PhD, Director 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.”

Meanwhile, the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) has launched a patient contact registry for people with eosinophilic gastrointestinal diseases (EGID). Establishing the database will make it easier for investigators to identify and recruit patients for new research studies. For enrolled patients and caregivers, the registry will provide direct notification of research studies, periodic research updates, patient advocacy information, and more.

“This registry will transform our ability to develop the best diagnostics and treatments for EGIDs by improving the way in which patients and their families can contribute and be involved in the efforts to understand these diseases,” says Marc Rothenberg, MD, PhD, Director of Allergy and Immunology and the Cincinnati Center for Eosinophilic Disorders at Cincinnati Children’s.