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Emerging Tech Could Detect Autism in Newborns with a Skin Sample

It's combined with a functional biophysical assay to determine a newborn’s high probability of ASD.

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NeuroQure, a biotech startup specializing in gene therapy for neurocognitive disorders, has reached a milestone in the development of its first commercial product. The company has acquired the exclusive rights to license a patent portfolio from the UC Irvine Center for Autism Research and Translation (CART). This intellectual property, developed over seven years with an investment of more than $14 million, forms the cornerstone for the creation of precise diagnostic tools for autism spectrum disorder (ASD) and related intellectual disabilities.

The patented portfolio was developed by Dr. John Jay Gargus, MD. Ph.D. and his team during his tenure as Founding Director of CART. Dr. Gargus, a highly respected and world-renowned geneticist who has dedicated his career to advancing scientific research on neurological disorders, currently serves as NeuroQure’s Founding Scientist.

“The exclusive license of patents from UC Irvine has the potential for NeuroQure to bring medical diagnostic tools validated with top-tier publications and issued patents as a functional biomarker diagnostic for the broad ASD spectrum from the lab to market, enabling early intervention and improving children’s lives,” said David Justus, NeuroQure’s Founder and CEO.

The Autism Community in Action (TACA) is a national nonprofit organization with programs and volunteers spanning over 41 states and is growing to support an estimated 1,500 families monthly.

Research consistently shows the earlier treatment such as behavioral therapy begins, the better the outcome for the child. Current methods either deliver results too late or prove ineffective, creating a pressing need in the community for a diagnostic tool capable of identifying ASD at the earliest age possible.

“As part of the Autism Sequencing Consortium, CART contributed to the identification of more than 185 genes strongly implicated in Autism, but the heterogeneity of ASD and the complexity of that genetic signal still renders a polygenic risk score based on DNA sequencing alone of little practical utility, despite the fact that a number of labs are beginning to offer variations of such sequencing diagnostics,” said Dr. Gargus, NeuroQure’s Founding Scientist.

As detailed in a NIH’s National Library of Medicine article, the patented calcium signaling technique enables early detection of ASD in newborns enabling early intervention with behavioral therapy and other medically proven therapies. This technique, as detailed in the several published papers, demonstrates that it is possible to use a skin biopsy, or discarded foreskin, and a functional biophysical assay to determine a newborn’s high probability of ASD.

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