Researchers at London Health Sciences Centre (LHSC) and Lawson Health Research Institute are utilizing advanced technology and artificial intelligence (AI) to diagnose rare diseases and birth abnormalities in two recent studies published in American Journal of Human Genetics and Genetics in Medicine.

The research employs a technology known as EpiSign™, developed by Dr. Bekim Sadikovic, a Lawson Scientist at LHSC. EpiSign utilizes AI to analyze a patient’s epigenome, which is a unique chemical fingerprint that influences gene expression. This technology can now assist in diagnosing over 100 genetic diseases that were previously challenging to identify.

Breakthrough in Diagnosing Birth Disorders

In one of the studies, Dr. Sadikovic’s team demonstrated that EpiSign can accurately identify patients with recurrent constellation of embryonic malformations (RCEMs). For over 70 years, identifying the cause and specific diagnostic markers for RCEMs has proven difficult, complicating accurate diagnoses for patients and their families. EpiSign now enables accurate identification of RCEMs through a simple blood test.

“Reaching an early and accurate diagnosis can be lifechanging. This is a major breakthrough that allows physicians to provide earlier and more accurate diagnosis, resulting in improved disease management,” said Dr. Sadikovic.

Identifying Fetal Valproate Syndrome

In a second study, EpiSign technology was used to develop a reliable biomarker for fetal valproate syndrome, a disorder caused by prenatal exposure to harmful medication levels. This syndrome can lead to various neurodevelopmental disorders in infants.

This is a significant breakthrough as it’s the first time the technology has been used to aid in diagnosis of a disease caused by environmental factors rather than genetics. It highlights how epigenetics can be influenced by environmental and lifestyle factors, including diet, exercise and exposure to toxins,” stated Dr. Bekim Sadikovic.

Ongoing Research and Future Prospects

The research continues as Dr. Sadikovic and his team collaborate with the global EpiSign Discovery Research network to develop biomarkers for over 700 rare disorders. This research holds immense potential for diagnosing, prognosing, and treating various diseases, 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,” he noted. “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.”

These studies are a collaborative effort involving multidisciplinary teams across Canada, the United States, the United Kingdom, and Europe. The first study, titled “Identification of a DNA methylation episignature biomarker for recurrent constellations of embryonic malformations,” is published in American Journal of Human Genetics. The second study, titled “Discovery of DNA methylation signature of teratogenic exposure to valproic acid,” is published in Genetics in Medicine. Funding for the research was provided by Genome Canada and Ontario Genomics, along with support from EpiSign Inc.

Source: News Medical