When I first began researching autism more than a decade ago, one question kept me awake at night: Could we find an objective, biological way to diagnose autism spectrum disorder (ASD)?
For families, the diagnostic journey can be long, uncertain, and emotionally draining. Current methods depend heavily on behavioral observation and developmental assessments, which—though valuable—are subjective and often vary from one clinician to another. The absence of a clear laboratory test has left parents searching for certainty, and doctors wishing for a more precise tool.
This is where biomarkers enter the story.
What Are Biomarkers, and Why Do They Matter?
A biomarker is a measurable biological signal—something in the blood, urine, or tissues that reflects a process happening in the body. In diabetes, for example, blood sugar and HbA1c are trusted biomarkers. In heart disease, cholesterol levels are widely used.
For autism, we asked: Could there be reliable biochemical fingerprints that reveal the condition, much like a blood test can reveal diabetes?
The promise of biomarkers lies not just in diagnosis but in objectivity. They provide measurable, reproducible evidence—reducing uncertainty for families, helping clinicians act with confidence, and enabling earlier interventions for children.
The 2018 Discovery: Opening a Door IMG_5795
In 2018, my colleagues and I published a study in Molecular Autism that offered the first real evidence that autism might leave a trace in the body’s chemistry.
We found that children with ASD showed higher levels of certain advanced glycation endproducts (AGEs) and oxidative stress markers such as dityrosine. These molecules form when sugar metabolism goes awry, creating a toxic stress environment in cells.
Even more striking was how well these markers could distinguish children with autism from those without. Using machine learning to combine the data, we achieved over 90% sensitivity and 84% specificity—numbers that hinted at the possibility of a blood test for autism.
For the first time, we glimpsed a future where diagnosis could be supported by biochemistry, not just observation.
The 2023 Validation: From Theory to Clinical Reality
But in science, discovery must be tested, challenged, and validated. That is exactly what we did in our follow-up study, published in Molecular Psychiatry in 2023.
This time, we worked with a much larger and more diverse group—478 children, from 1.5 to 12 years of age, across Qatar and Spain. The results reaffirmed our earlier findings: biomarkers of glycation and oxidation were consistently elevated in children with ASD.
Even more importantly, we discovered that these biomarkers were not only linked to the presence of autism but also correlated with its severity. Children with higher levels of certain markers, such as methylglyoxal-derived adducts, often showed more severe symptoms.
This was the breakthrough: a validated panel of biomarkers that could help both in diagnosis and in understanding causes and severity.
Why This Changes the Future of Autism Care
Imagine a world where a simple blood test could:
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Provide earlier diagnosis, allowing families to seek support before symptoms become more difficult to manage.
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Offer an objective measure of severity, giving clinicians a clearer picture of each child’s unique needs.
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Enable personalized care, where therapies and interventions could be tailored to the biochemical profile of each individual.
This is no longer just imagination—it is within reach.
A Personal Reflection
For me, this journey from 2018 to 2023 is more than just a scientific achievement. It is about listening to families who have longed for clarity, and about building a bridge between the laboratory and the clinic.
Biomarkers hold the power to transform autism care—from uncertainty to confidence, from generalization to personalization.
As we move forward, our goal at iDiagnostix is to take these findings from research journals into real-world solutions—blood tests that families and clinicians can rely on, and supportive products like GlucoRegulate™, which address the metabolic stress underlying these biomarkers.
The science is ready. The time for change is now. IMG_5795
— Professor Naila Rabbani