News Circa Bioscience Receives NIH Funding for Autism Test Development Greenwood, SC (May 7, 2018) – The National Institute of Mental Health (NIMH), part of the National Institutes of Health (NIH), has awarded a two-year, $779,000 Phase 1 Small Business Technology Transfer (STTR) grant to Circa Bioscience, LLC based in Greenwood, SC. The grant will fund research and development activities focused on the translation of the Greenwood Genetic Center’s (GGC’s) research on autism spectrum disorder (ASD) into a clinically available blood screening test. In 2013, GGC researchers, led by Luigi Boccuto, MD, discovered that cultured cells from individuals with ASD displayed reduced metabolic activity when tryptophan, an amino acid, was the only available energy source. “Using this assay, we were able to correctly identify 92% of individuals with ASD, with even better performance in the younger individuals we were targeting,” shared Boccuto. “This provided strong evidence that we could potentially screen for ASD risk using a biochemical blood test.” Currently, an ASD diagnosis can only be achieved through clinical observation and parent questionnaires, and only after features develop. The Centers for Disease Control and Prevention released updated statistics last week indicating that 1 in 59 children in the US is diagnosed with ASD, up from 1 in 68 reported in 2016. “Cell lines, as used by GGC, require significant time and resources to create and maintain,” said Kevin Champaigne, PhD, founder and CEO of Circa Bioscience which is located in GGC’s McAlhany Family Center for Collaborative Research. “The focus of our work through this NIMH grant will be to translate GGC’s findings from patient cell lines into a test that can be performed on a simple blood sample.” Boccuto added that an early diagnosis for a child with ASD allows for earlier therapeutic intervention, which can lead to improved behavioral outcomes. The work has also led the team to consider potential treatments that could change the course of the diagnosis. “We are hopeful that this understanding of the biochemical changes in individuals with ASD will guide us to effective treatment strategies,” said Boccuto. “We are very excited for the opportunity to collaborate with the GGC to develop a widely-available screening test to help children and families achieve an earlier diagnosis with the potential of improved outcomes,” said Champaigne. “And we are all indebted to the many families who have participated in GGC’s autism research over the years for helping us reach this pivotal point.” Initial collaborative work between Champaigne and Boccuto’s lab was funded through a three year Self Regional Healthcare Foundation grant. About Circa Bioscience, LLC Circa Bioscience, LLC is a bioengineering company focused on the development of novel diagnostic, screening, and monitoring technologies, particularly for neurodevelopmental and metabolic diseases. Circa Bioscience is working to identify and validate disease-relevant biomarkers for such conditions as autism spectrum disorder (ASD), Rett syndrome, and phenylketonuria (PKU), and to develop reliable assays and technologies for measuring these biomarkers at the clinic, in the laboratory, or at home. For more information, visit www.circabioscience.com. About Greenwood Genetic Center The Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics. GGC’s faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve. GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. The GGC Foundation provides philanthropic financial support for the mission of the Center. For more information about GGC or the GGC Foundation please visit www.ggc.org.

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