Believe in Me Foundation donation will support Greenwood Genetic Center’s work to develop autism screening test.

How can clinicians reliably diagnose autism in the very young? Getting a diagnosis as early as possible, when the child’s brain is still developing, can lead to more positive treatment outcomes.

At the Greenwood Genetic Centre, a nonprofit medical genetics institute in South Carolina, developing an early diagnostic test is a key research focus. Last week the Believe in Me Foundation, which is committed to supporting the welfare and education of children with autism, donated $50,000 to the Center to support research to develop a blood test for autism. 

“We are very grateful to the Believe in Me Foundation for supporting this exciting work which will help make the autism diagnosis at the earliest possible age, when therapies can be most beneficial,” shared Dr. Tim Wood, Director of the Biochemical Genetics Lab at GGC. “Our hope is that these findings will lead us to effective treatments – which is the ultimate goal.” 

Figuring out the underlying genetics of autism is a complex challenge. Work at the GGC alone has identified a wide range of cytogenetic and single gene associations that could be linked to the condition. The Center’s current approach is to tackle the condition on all fronts, studying both the genome, and the phenotype.

Speaking to FLG, GGC Head of Communications, Lori Bassett, MS, CGC said, “This test discovery has been fueled by metabolomics. We started by looking at over 600 metabolites and have found approximately 20 that have been very good discriminators between children with ASD and controls (typically developing children). Some metabolites are elevated and some are decreased in children with an ASD as compared to controls.”

“We have found that this test works best at younger ages, which is exactly what we were hoping to see – to allow us to make the diagnosis, or at least identify children at risk, before symptoms emerge. An earlier diagnosis will lead to an earlier start on available therapies.”

Studying metabolism also helps researchers to understanding which biochemical pathways that may be disrupted in patients with autistic spectrum disorders. As well as enabling early diagnosis, this information could form the basis for an effective treatment.

 

Front Line Genomics will be running a treadmill challenge for Race the Helix at Festival of Genomics California this year, in support of the work of Greenwood Genetic Center.

 

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