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Cincinnati Children’s Hospital Medical Center: NIH Award To Create National Rare Childhood Genetic Disorders Database

March 26, 2015

Cincinnati Children’s Hospital Medical Center (CCHMC) is awarded $2.2 million as part of the Newborn Screening Translational Research Network (NBSTRN), to create and maintain a national database of genetic information from children with rare genetic disorders. The national database is called the Longitudinal Pediatric Data Resource (LPDR). LPDR supports newborn screening researchers by offering permission-based access and data sharing for longitudinal collection of clinical and research information.

Among the list of diseases included in LPDR are:

•   Lysosomal Storage Disorders

•   Inborn Errors of Metabolism

•   Severe Combined Immunodeficiency Disorders.

Per Peter W. White, PhD, Director of the Division of Biomedical Informatics at CCHMC:

“A large number of serious diseases of newborns can potentially be identified through existing newborn screening programs. 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.”

Reference

Cincinnati Children’s Hospital Medical Center March 24, 2015, Press Release.

Please Note:Dandelion Sisters” by US Nessie (Own work) [CC BY-SA 3.0 | via Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

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