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Researchers developing new test to measure risk for birth defects and neuro-developmental disorders

Researchers at SUNY Downstate Medical Center have received a $50,000 grant from the SUNY Research Foundation Technology Accelerator Fund to develop a diagnostic test for the folate receptor autoantibody. This autoantibody is associated with neural tube defects, subfertility, cerebral folate deficiency in infants and autism spectrum disorders.

Among the most common birth defects in the United States, neural tube defects result in the brain and spinal cord not developing 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 tube defects. Public health campaigns emphasizing the importance of a diet rich in folate and the taking of folate supplements during pregnancy have reduced the incidence of neural tube defects dramatically.

Edward Quadros, PhD, research professor of medicine, and research scientist Jeffrey Sequeira, MS, have been studying a biomarker for folate problems called folate receptor (FR) autoantibodies. The antibodies appear to block nutritional folate from entering cells that need them or they trigger an immune response that counteracts the effects of folate. In addition to playing a causative role in neural tube defects, the FR antibodies have been implicated in autism and other neurodevelopmental diseases, such as Rett syndrome and cerebral folate deficiency syndrome, and subfertility.

Dr. Quadros has created a test for FR antibodies, an ELISA-based assay, which he hopes 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 neuro-developmental disorders. Autism, which occurs in one in 100 children, is not usually diagnosed until the children are around two years old. By helping to identify women and children at risk for folate-related problems, the test could alert physicians to prescribe folate supplements for these patients.

Dr. 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."

The State University of New York and the Research Foundation created the SUNY Technology Accelerator Fund (TAF) to support innovation across the SUNY research community. TAF assists the SUNY community by providing funding to accelerate the development and commercialization of promising technologies. Five diverse proposals were selected to receive a total of $250,000 in funding for this first round of TAF awards.


Contact: Ron Najman
SUNY Downstate Medical Center

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