NeuroQure's ASD Insight Identifies Risk Within Days of Birth
NeuroQure’s ASD Insight is a novel test that identifies autism risk within days of birth by detecting a molecular defect in IP3 channel gating through a functional skin biopsy assay. This breakthrough technology enables early detection and intervention, which research shows can lead to an average IQ improvement of over 17 points in toddlers with autism.
Current Diagnostic Methods Are Often Too Late or Ineffective
The average diagnosis occurs at 5 years of age, well past critical developmental windows. Traditional tools like the ADOS-2, while considered the "gold standard," face limitations in accessibility, cost, and suitability for children under 24 months or those with motor or sensory disabilities.
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Intracellular Calcium Rysregulation In ASD: An Analysis of Converging Organelle Signaling Pathways
A recent study published in PubMed highlights the critical role of rare inherited genetic variants in contributing to autism risk. Unlike common genetic variations, these rare variants often passed down from parents, can significantly impact neurodevelopment, influencing the likelihood of an ASD diagnosis. Researchers aim to improve early detection and intervention strategies for families at risk by better understanding these inherited genetic factors.
High-Throughput Screen Detects Calcium Signaling Dysfunction in Typical Sporadic ASD
A groundbreaking study reveals that individuals with ASD exhibit distinct metabolic profiles. Using advanced metabolomics analysis, researchers identified significant differences in key metabolic pathways, such as amino acid and lipid metabolism. These findings pave the way for innovative diagnostic tools and therapeutic approaches, offering new insights into the biological underpinnings of ASD.
ASD Insight By the Numbers
Weeks
Results available within weeks sample collection
Days
Suitable for those as young as two days old
The Power of Early Autism Intervention
The Average Age of Diagnosis is 5 Years Old
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- General information: Autism spectrum disorder (ASD) has no defined biomarkers for diagnostics or novel drug discovery. A major cluster of ASD-associated loci encode calcium signaling proteins. Functional measurement of these signals in fibroblasts shows altered intracellular Ca2+ release in monogenic syndromes associated with ASD (FMR1, TSC1, TSC2, etc.), as well as sporadic ASD. Ca2+ channels in these patients demonstrate a reduced mean open-time and therefore low flux, while other measurable parameters, such as channel abundance, selectivity, conductance, and latency, are unchanged. This result is similar to single-channel kinetic changes seen in genetic Channelopathies.
- Methodology: The skin biopsy is processed using enzymatic dissociation and fibroblasts are cultured in standard medium. Cultured cells are plated in triplicate along with controls and then subjected to stimulation of Ca2+ signaling with ATP, ionomycin and buffer. All triplicates are averaged and normalized to a baseline based on triplicate controls included on each plate. The Ca2+ signal and closure of the calcium channel is calculated based on a previously published algorithm (Schmunk et al.) and reported as detected or not detected based on the rate of calcium flux on closure as compared to controls. The reference range is not detected based on the measured calcium flux, which is physiologic and in the range of that seen in neurotypical controls.
- References: Schmunk G, Nguyen RL, Ferguson DL, Kumar K, Parker I, Gargus JJ. High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder. Sci Rep. 2017;7:40740 Nguyen RL, Medvedeva YV, Ayyagari TE, Schmunk G, Gargus JJ. Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways. Biochim Biophys Acta Mol Cell Res. 2018;1865(11 Pt B):1718-1732.Schmunk G, Boubion BJ, Smith IF, Parker I, Gargus JJ. Shared functional defect in IP3R-mediated calcium signaling in diverse monogenic autism syndromes. Transl Psychiatry. 2015;5(9):e643.
- Disclaimer: The ASD Insight Test was developed and its performance characteristics were determined by Exceltox Laboratories, LLC 15375, Barranca Pkwy, E104 Irvine CA 92618. It has not been cleared or approved by the US Food and Drug Administration. This test is used for clinical purposes. It should not be regarded as investigational or for research. Exceltox Labs is accredited by the College of American Pathologists (CAP) under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing.