Jeffrey, NHGRI and Affymetrix to Develop Newborn Screening Tests
News Oct 07, 2005
The Jeffrey Modell Foundation (JMF), the National Human Genome Research Institute (NHGRI) and Affymetrix Inc. have announced that they will work together to develop two molecular DNA tests that could ultimately help save the lives of children born with severe combined immunodeficiency (SCID) and other primary immunodeficiency (PI) disorders.
The JMF will fund the joint collaboration between these public, private and non-profit organizations.
“Over the past 20 years, we have sat with too many grieving parents whose infants or very young children were lost because their underlying condition had not been diagnosed in an accurate and timely manner,” said Fred Modell.
“We have discussed this tragic problem with government agencies, with other non-profits and with industry.”
“We believe it is essential that we 'jumpstart' the development of newborn screening for SCID.”
“That is why we have taken the initiative to make this happen now. This collaboration with Affymetrix and the NHGRI will help give doctors the tools they need to help save these children.”
The joint research collaboration aims to demonstrate the feasibility of using a pair of molecular DNA tests to detect PI in newborns and children with recurrent opportunistic infections.
The first test, which will be developed by NHGRI, will look for a form of DNA found only in children with normal immune systems.
If this first test is abnormal, a secondary test that is based on Affymetrix GeneChip® technology will be used to screen for changes in the specific genes associated with PI.
“Primary immunodeficiencies are treatable, but to be treated optimally they must be recognized early in life before severe infections occur,” said Jennifer Puck, M.D., Chief of the Genetics and Molecular Biology Branch and Head of the Immunologic Disease Section at NHGRI.
“This project will combine a simple 'yes or no' screening test with advanced technology that may help scientists and ultimately physicians identify infants who need urgent medical attention for primary immunodeficiency.”
“The collaboration demonstrates how public, private and non-profit entities can partner to apply the benefits of the human genome sequence to improving health outcomes.”
“The Jeffrey Modell Foundation sets the standard in advocating for and promoting advances in newborn screening that could save the lives of children with primary immunodeficiencies,” said Janet A. Warrington, Ph.D., vice president, Emerging Markets and Molecular Diagnostics Research and Development at Affymetrix.
“We are honored to be working with the JMF and NHGRI on this important project and believe our GeneChip technology can accelerate more comprehensive detection and treatment of primary immunodeficiencies and other genetic conditions.”
Scientists used a gene editing method called CRISPR/Cas9 to generate mice that faithfully mimic a fatal respiratory disorder in newborn infants that turns their lips and skin blue. The new laboratory model allowed researchers to pinpoint the ailment's cause and develop a potential and desperately needed nanoparticle-based treatment.READ MORE