CASE STUDY March 31, 2023

AI-powered early detection of rare diseases for global pharma


Due to limited awareness and treatment choices, rare diseases are frequently misdiagnosed or diagnosed late, sometimes remaining undetected. This results in avoidable health decline and loss of life. Our client, a global pharmaceutical leader, aimed to detect rare disease patients early, addressing medical gaps and enhancing patient well-being and lifespan.


Our AI/ML solution successfully identified rare disease patients early, connecting them to suitable healthcare providers. Using cohort creation and predictive modeling, we achieved 72% accurate, early identification, surpassing clinical methods. Notably, we identified 1% of new undiagnosed patients with a high likelihood of a rare disease, demonstrating the impactful value delivered.

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