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Newborn screening program aims to help transform treatments for genetic diseases detected at birth
Date:1/17/2012

ve-year award from the Newborn Screening Translational Research Network (NBSTRN) to the American College of Medical Genetics. The NBSTRN, in turn, is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health.

The subcontract award to Children's Hospital totals $1.8 million over three years.

A classic example of a disease detected in newborn screening is phenylketonuria (PKU), in which a mutated gene disables a patient's ability to process the amino acid phenylananine. Untreated, the excess amino acid causes severe mental retardation. But major diet restrictions, beginning in the first few weeks of life, allow near-normal development. Newborn screening programs have sharply reduced PKU-related mental retardation over the past four decades.

Over the years, more than 50 additional diseases have been added to the newborn screening list, including sickle cell disease and cystic fibrosis. If the initial screening flags a suspected disorder, healthcare providers order further tests to confirm or rule out the first result.

The data repository planned in this project will store long-term clinical records of patients who test positive for a disorder in the confirmatory test. Secure, centralized records will collect results of follow-up tests, disease complications, medications and treatment records over the years. To protect confidentiality, the clinical information will not include patient identities--but will provide invaluable clues to authorized researchers seeking to improve disease outcomes.

"Genetic diseases don't go away; a big question is what happens after the newborn period," said Michael J. Bennett, Ph.D., director of the Metabolic Disease Laboratory at Children's Hospital, who chaired a group in the National Academy of Clinical Biochemistry that developed national guidelines for follow-up testing of metabolic diseases detected in newborn sc
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Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

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