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

reening. "Collecting data will allow researchers to monitor long-term outcomes and develop better strategies to diagnose and treat diseases."

A centralized database will allow scientists to detect patterns in the data that typically would not be discernible among the small number of cases followed in any single center. "Researchers will be better able to determine which treatments may yield better outcomes," Bennett said, adding that knowledge of genetic profiles may also allow investigators to modify treatment based on genetic background. Such treatments may include new gene therapies, enzyme replacement strategies, or developing drugs to act on targeted metabolic pathways.

White said that longer-term follow-up information in the repository may provide the potential to develop interventions for currently untreatable diseases, for example, spinal muscular atrophy, a complex and devastating neurological disorder that can be detected at birth, though not currently on the list of diseases included in newborn screening. "We envision that this data collective could become a transformative resource for biomedical research," he added.


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Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

Page: 1 2 3

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