Researchers are harnessing state-of-the-art technology and artificial intelligence (AI) to identify rare diseases and birth defects related to prenatal exposure in two recent studies.
Scientists from London Health Sciences Centre (LHSC) and Lawson Health Research Institute are employing cutting-edge technology and artificial intelligence (AI) to diagnose rare diseases and birth defects associated with prenatal exposure in two studies released today in American Journal of Human Genetics and Genetics in Medicine.
This research incorporates a technology known as EpiSignâ„¢, created by Dr. Bekim Sadikovic, a Lawson Scientist at LHSC. EpiSign utilizes AI to analyze a patient’s epigenome—a distinctive chemical marker unique to each individual that modifies gene expression. Currently, EpiSign can assist in diagnosing over 100 genetic conditions that have historically been challenging to pinpoint.
In one of the newly published studies, Dr. Sadikovic’s team demonstrated that EpiSign can effectively identify patients with a category of birth disorders named recurrent constellation of embryonic malformations (RCEMs). Despite being recognized for over 70 years, identifying the specific causes and diagnostic markers for RCEMs has remained elusive, complicating the process of providing accurate diagnoses to affected families. EpiSign now enables the precise identification of RCEMs through a simple blood test for the first time.
“Achieving an early and precise diagnosis can be transformative. This represents a significant advancement that allows doctors to deliver timely and more accurate diagnoses, leading to better disease management,” stated Dr. Sadikovic, who also holds the position of Research Chair in Clinical Genomics and Epigenomics at the Archie and Irene Verspeeten Clinical Genome Centre at LHSC. “There’s also the potential for savings in the healthcare system, as many patients endure years of testing to exclude other diseases with similar symptoms.”
In a separate study, Dr. Sadikovic’s team applied EpiSign technology for the first time to identify an accurate biomarker for a set of disorders known as fetal valproate syndrome. This condition arises from prenatal exposure to harmful levels of medication sometimes used for treating bipolar disorder, migraines, or seizures related to epilepsy. The syndrome can result in various neurodevelopmental issues in infants, such as learning disabilities, communication challenges, motor difficulties, autism, and intellectual impairments.
“This marks a notable achievement as it’s the first instance the technology has been used to diagnose a disease stemming from environmental influences rather than hereditary factors,” commented Dr. Sadikovic. “It underscores how epigenetics can be affected by lifestyle and environmental factors, including diet, exercise, and exposure to harmful substances.”
Ongoing research led by Dr. Sadikovic and his team, in partnership with the global EpiSign Discovery Research network, is focused on studying and discovering biomarkers for over 700 rare disorders. He pointed out the vast possibilities of this research, indicating its potential application in diagnosing, predicting, and treating numerous diseases and conditions, including cancer.
“One in 20 individuals is affected by a rare disease, which can emerge at any stage of life and might be triggered by genetic factors, environmental influences, or a combination of both,” he mentioned. “We can enhance the diagnosis of an ever-expanding range of genetic diseases, and now, for the first time, we’re able to investigate beyond the genome to precisely assess the effects of environmental factors.”
These studies are the result of collaborative efforts among multidisciplinary teams from Canada, the United States, the United Kingdom, and Europe. The initial study, titled “Identification of a DNA methylation episignature biomarker for recurrent constellations of embryonic malformations,” has been published in American Journal of Human Genetics. The second study, titled “Discovery of DNA methylation signature of teratogenic exposure to valproic acid,” appears in Genetics in Medicine. The research received funding from Genome Canada and Ontario Genomics, along with support from EpiSign Inc.
