A New Test to Identify Birth Defect Risk and Developmental Disorders

Neural tube defects are among the most common birth defects in the US in which the brain and spinal cord do not develop properly. Affected babies may be partially paralyzed for life, or worse, can die in utero or shortly after birth. The nutrient folate plays a key role in neural development.


Indeed, public health campaigns emphasizing that pregnant women have enough folate in their diet or take supplements with folate have reduced the incidence of neural tube defects dramatically.


Edward Quadros, a professor of cell biology, and Jeffrey Sequeira, a research scientist at SUNY Downstate Medical Center, have been studying a biomarker of folate problems called folate receptor (FR) autoantibodies. The antibodies appear to block folate from entering cells that need them the most or they trigger an immune response and inflammation that causes tissue damage and blocks folate transport. In addition to playing a causative role in neural tube defects (NTD), the FR antibodies have been implicated in autism and other neuro-developmental diseases, such as Rett syndrome and cerebral folate deficiency (CFD) syndrome.


Now the team has a test for FR autoantibodies, an ELISA-based assay, that they hope to develop into a clinically useful tool to diagnose the risk of folate-related problems for women of childbearing age as well as in young children with developmental disorders.


Autism, which occurs in 1 in 100 children, is not usually diagnosed until the child is a few years old. By helping identify those women and children at risk, they could be treated with high dose folate supplementation that can skirt the antibody block and prevent the development of folate receptor autoimmunity-related disorders.


Quadros says, “The potential impact of this test is the prevention of neural tube defects as well as a whole range of neurodevelopmental and autism spectrum disorders.”


Quadros’ test for FR autoantibodies is one of five diverse proposals that were selected in June 2011 to receive a total of $250,000 in funding for the first round of the Technology Accelerator Fund (TAF) awards. TAF is a program launched by SUNY and the Research Foundation in April to identify and support opportunities where strategic investments will make a significant impact on moving products and services to the marketplace.


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SUNY Downstate Researchers Developing New Test To Measure Risk For Birth Defects And Neuro-Development Disorders: Test Targets Folate Receptor Autoantibodies


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