Researchers at London Health Sciences Centre and Lawson Health Research Institute have made a groundbreaking discovery in the field of diagnosing rare diseases and birth disorders. Utilizing new technology and artificial intelligence, they have developed a method to diagnose these conditions through a simple blood test.
The innovative technology, known as EpiSign, was created by Dr. Bekim Sadikovic, a scientist at Lawson Health Research Institute. EpiSign works by analyzing a patient’s epigenome, which is a unique chemical signature on top of DNA responsible for gene activation and deactivation. This cutting-edge approach can diagnose over 100 genetic diseases that were previously challenging to identify.
One of the key findings of this research is the ability to accurately diagnose recurrent constellation of embryonic malformations (RCEMs), a group of birth disorders that have remained elusive for over 70 years. By using EpiSign, doctors can now provide patients and their families with precise diagnoses and targeted treatment options.
In addition to rare diseases, EpiSign has also been successful in developing biomarkers for disorders like fetal valproate syndrome, caused by prenatal exposure to certain medications. This breakthrough allows medical professionals to predict and prevent potential disorders in infants, offering better care and support for affected families.
The impact of this research extends beyond rare diseases, as it has the potential to revolutionize diagnosis and treatment for a wide range of conditions, including cancer. The global EpiSign Discovery Research network is actively working on identifying biomarkers for over 700 rare disorders, with the aim of improving patient outcomes and advancing personalized medicine.
This groundbreaking work is funded by Genome Canada, Ontario Genetics, and supported by EpiSign Inc. The researchers are currently conducting national and international trials to assess the widespread benefits of EpiSign testing in clinical settings. With the potential to help millions of individuals with rare diseases, this technology represents a significant step forward in healthcare innovation.
The implications of this research are far-reaching, offering hope to patients who have previously struggled to receive a diagnosis. By harnessing the power of artificial intelligence and advanced technology, researchers are paving the way for a new era of precision medicine that holds promise for improving the lives of countless individuals worldwide.
