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NIH Awards CCHMC $2.2M to Develop Database of Rare Childhood Genetic Disorders

NEW YORK (GenomeWeb) – The National Institutes of Health has awarded the Cincinnati Children's Hospital Medical Center $2.2 million to develop and maintain a national database of genetic information from children with rare genetic disorders. 

The Longitudinal Pediatric Data Resource will be used by scientists to research new technologies and treatments, as well as to track the health outcomes of children who screen positive for a number of rare genetic disorders. Using the medical center's computing, data processing, and software development capabilities, bioinformatics experts at CCHMC will develop the LPDR database, which will include a web-based interface for data querying and exploration that will be made available to physicians and researchers nationwide. 

CCHMC said the tool will allow researchers to compare, quantify, and establish patterns between specific clinical data from patients and molecular, genetic, and genomic information in order to elucidate their illnesses and better inform treatment decisions. Researchers will be able to apply the combined screening and follow-up data to tackle challenges such as the development and evaluation of new methods for early disease identification and the identification of new candidate diseases for newborn screening. Additionally, they will be able to determine whether treatments are effective and assess the long-term outlook for screened disorders. 

Among the diseases to be included in the LPDR database are lysosomal storage disorders, inborn errors of metabolism, and severe combined immunodeficiency disorders, CCHMC said, adding it plans to include additional diseases and genomic data derived from DNA sequence-based tests. The project is led by Peter White, director of the division of biomedical informatics at the medical center. He and his colleagues will work closely with the NIH-sponsored Newborn Sequencing in Genomic Medicine and Public Health program. 

The funds are part of the Newborn Screening Translational Research Network, which is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. The effort is headed by theAmericanCollegeof Medical Genetics and Genomics. 

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