Clinakos

The Power of a Diagnosis

Patient Data, AI, CHEO, Clinakos, Rare Disease

For years, Anthony’s family lived in a state of uncertainty. His symptoms were complex and baffling, leaving doctors without answers and his parents without a path forward. The fear of not knowing what their son was up against grew heavier with each passing day.

Then, everything changed.

Through a groundbreaking AI algorithm developed at CHEO, Anthony’s data was analyzed alongside thousands of other cases. The results of the genetic testing revealed that Anthony has Chung-Jansen Syndrome—a rare disorder caused by a pathogenic variant in the PHIP gene. At present, only around 400 people worldwide have been diagnosed with this syndrome. This breakthrough finally explained many of Anthony’s health and behavioral challenges, including his developmental delays, learning difficulties, and large head size.

For Anthony’s parents, the diagnosis wasn’t just an answer—it was hope. It gave them clarity about their son’s condition and the next steps they could take for his care.

At Clinakos Inc., we salute the incredible work done by CHEO Research Institute and are proud to have served the rare disease community for over a decade. Through our Medically Smart AI™ and Integrated Patient Data™, we help life sciences teams unlock life-changing diagnoses and improve patient outcomes in rare diseases like Anthony’s.

We believe in the power of collaboration and innovation to transform lives. Reach out to us today (link in the comment section) —together we can change lives.

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