Elizabeth Donley—NeuroPoint DX—Implementing Metabolomics for Earlier Detection of Autism Spectrum Disorders

Stemina Biomarker Discovery was founded about 11 years ago by Elizabeth Donley, who aimed to use the study of metabolism (metabolomics) to understand how the underlying biological and biochemical reactions differ between various disorders. Donley works primarily within the neurological disorders division for NeuroPoint DX and is focused on applying metabolomics for the detection of autism spectrum disorders. The most recent paper on the subject looked at amino acid dysregulation in autism spectrum disorders and showed a strong association between low levels of branched amino acids and concurrently high levels of three other amino acids. The association accurately identified 17 percent of kids with autism and suggests that the outcome for those affected by autism spectrum disorders could be improved with a high protein diet.

The metabolic markers are identified by subjecting a sample of blood to mass spectrometry, which will show whether or not a child is positive for any of the 13 metabotypes that have been identified to date and that describe 30 percent of kids who fall on the autism spectrum. As it currently stands, the average age at which a child will be diagnosed with an autism spectrum disorder is 24 months based on behavioral characteristics, but many children do not receive diagnoses until they are much older, which means that time that could otherwise be spent using valuable behavioral therapies is being lost; it is Donley's goal to change this.

The team at NeuroPoint DX plans to launch its first panel before the end of the year and has already received lab certification to accept blood samples from children in 45 states. They're currently raising money to support further testing and validate the second panel, looking for partners for distribution, and exploring options in foreign markets.

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