Circa Bioscience Partners with GGC on NIH Grant for Autism Test

Circa Bioscience Partners with GGC on NIH Grant for Autism Test

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) research on autism spectrum disorder (ASD) into a clinically
available blood screening test.

In 2013, GGC researchers, led by Luigi Boccuto, MD, Assistant Research Scientist, 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.


Photo: Boccuto, Champaigne (right), and GGC research technologist, Lauren Cascio (seated), review results from the tryptophan assay.

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


Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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