Blood-Based Diagnostic Technology Accurately Detects Prenatal Exposure Syndromes and Birth Disorders

Researchers are employing sophisticated technology and artificial intelligence (AI) to improve the diagnosis of rare diseases and prenatal exposure-related birth abnormalities, as detailed in two studies featured in the American Journal of Human Genetics and Genetics in Medicine. The technology, known as EpiSign, utilizes AI to analyze the epigenome — each individual's unique chemical code that overlays their DNA and regulates gene activity. Currently, EpiSign assists in diagnosing over 100 genetic conditions that have historically been challenging to detect.

The first study, conducted by the team at London Health Sciences Centre (LHSC, London, ON, Canada) that developed EpiSign, demonstrated its efficacy in identifying a group of birth disorders known as recurrent constellation of embryonic malformations (RCEMs). Despite being recognized for over seven decades, the specific causes and diagnostic markers for RCEMs have remained elusive, making it difficult to provide accurate diagnosis to affected families. EpiSign now offers a groundbreaking method to accurately detect RCEMs using just a blood test.

In the second study, the same research team applied EpiSign to identify a reliable biomarker for fetal valproate syndrome for the first time. This syndrome results from prenatal exposure to high levels of medications used in managing bipolar disorder, migraines, or epilepsy, leading to a range of neurodevelopmental issues in children, such as learning disabilities, communication and motor disorders, autism, and intellectual disabilities. This research is part of an ongoing effort by the EpiSign Discovery Research network, which is expanding to study and develop biomarkers for over 700 rare disorders. The team has highlighted the vast potential of this research, which could extend to diagnosing, prognosing, and treating a wide array of other conditions, including cancer.

“One in 20 people have a rare disease that could present at any point in their lives and can be caused by genes, environmental exposures, or their combined effects,” said Dr. Bekim Sadikovic, Lawson Scientist at LHSC, who developed the EpiSign technology. “We can help diagnose a growing number of genetic diseases and, now for the first time, we can look beyond the genome and accurately measure the impact of the environment.”

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