Julian Isla, a senior software engineer at Microsoft and a passionate advocate for rare disease awareness, has introduced DxGPT, an AI-driven tool designed to assist in the early identification of rare diseases. The initiative was deeply personal for Isla, who spent years seeking a diagnosis for his son, Sergio, who eventually was diagnosed with Dravet syndrome, a rare and catastrophic form of epilepsy.
Motivated by the diagnostic challenges his family faced, Isla co-founded the nonprofit organization Foundation 29 in 2017. The foundation aims to harness technology and data to improve the lives of people affected by rare diseases, an area often overlooked due to the complexity and scarcity of cases.
DxGPT is powered by cutting-edge language models, including OpenAI’s GPT-4o and o1 and runs securely through Microsoft’s Azure cloud services. The tool allows users, whether patients, caregivers or healthcare professionals to enter symptoms, which it then analyzes against a comprehensive database of over 10,000 known rare diseases to provide possible diagnostic suggestions. Notably, DxGPT emphasizes user privacy: it does not store personal data and offers free access through its online platform.
Since its release, DxGPT has been used by more than 500,000 individuals in over 100 countries. It has been successfully piloted within Madrid’s public healthcare system, where more than 6,000 physicians can now access it to support complex case management.
The project gained crucial support when Isla personally reached out to Microsoft CEO Satya Nadella, who quickly recognized the potential of the tool and connected Isla with Microsoft’s internal AI and health innovation teams. Their collaboration highlights the role that corporate support, personal experience and artificial intelligence can play in reshaping the future of healthcare, particularly for patients navigating the long and often painful diagnostic journeys of rare diseases.
Disclaimer: This article is for informational purposes only and does not constitute medical advice. DxGPT is intended to assist but not replace professional medical evaluation and diagnosis.
