Children’s Hospital of Eastern Ontario (CHEO) researchers have developed an innovative artificial intelligence-powered algorithm to detect rare genetic disorders in children more efficiently. This groundbreaking technology has the potential to revolutionize the field of pediatric medicine by identifying cases that may have otherwise gone undiagnosed.
In a recent pilot project, the CHEO team used the AI algorithm to analyze a vast dataset of patient records spanning a decade, uncovering 15 cases of undiagnosed rare genetic diseases in children and adolescents. These disorders, which are often challenging to diagnose due to their rarity and complexity, can lead to significant delays in treatment and care.
One such case was that of 10-year-old Anthony Whistaff, who had been experiencing developmental delays and health issues since birth. Despite numerous visits to various clinics and emergency departments, his condition remained a mystery. However, thanks to the ThinkRare algorithm, Anthony was diagnosed with Chun-Janssen syndrome, a rare disease that affects only a few hundred people worldwide.
The impact of this diagnosis was profound for Anthony and his family, as it explained many of his health challenges and provided a clear path for targeted treatment and support. For parents Georges and Kimberly Whistaff, the diagnosis brought a sense of relief and enabled them to focus on getting the best care for their son.
Dr. Kim Boycott, senior research scientist at CHEO, emphasized the importance of early diagnosis in rare genetic diseases to avoid prolonged uncertainty and frustration for patients and their families. The ThinkRare algorithm, developed over three years by the CHEO team, aims to streamline the diagnostic process and ensure timely access to specialized care.
Moving forward, CHEO plans to expand the use of the ThinkRare algorithm to all current and new patients, underscoring their commitment to leveraging AI technology for the benefit of pediatric healthcare. By sharing this cutting-edge tool with pediatric hospitals globally, CHEO hopes to facilitate earlier detection and intervention in rare genetic disorders, ultimately improving outcomes for children worldwide.
