How the misdiagnosis of a Microsoft software developer's son AI DXGPT caused a 'game changer' for diagnoses of rare diseases | Mint

Artificial intelligence is often discussed in terms of the future, but it has already become a real hero for many families living with rare diseases. When Julián Isla’s newborn son Sergio suddenly started to shake during a bath, the panic of the panic was. What followed was a grueling ten -month search for answers, filled with hospital visits, wrong diagnoses and heartbreaking uncertainty. Sergio was eventually diagnosed with Dravet syndrome, a serious neurological condition that causes regular and dangerous attacks. But then he had suffered a lot. Who is Julián Isla? Julián, a software engineer at Microsoft in Madrid, has realized something powerful: Technology, especially AI, can help stop other families from going through the same nightmare. “We felt so much fear and uncertainty. It was heartbreaking to waste time wasting a doctor after doctor without answers, ‘says Julián. “I knew there had to be a better way.” How did AI come to the rescue? In 2017, determined to make a difference, Julián Foundation 29, a non-profit organization, focused on the use of artificial intelligence to speed up the diagnosis of rare diseases. Ai was able to collect and analyze the enormous amounts of data that doctors often struggle to work on their own. At a Microsoft event, CEO Julián heard Satya Nadella talk about his own experiences with a child who had special needs. Nadella sent a deep connection and Nadella ‘Ne post to share his story – and within five minutes Nadella answered and connected him to Microsoft’s healthcare teams. What is DXGPT? The collaboration brought DXGPT to life. DXGPT, built with Microsoft’s Azure Openai service, uses powerful AI models such as GPT-4O to diagnose rare diseases. Patients can simply import their symptoms and receive a list of possible conditions within minutes. It is free to use, respect privacy and serves as a starting point for doctors to confirm diagnoses with further tests. Since the launch, more than 500,000 people around the world have used DXGPT – from the US to Europe, India and China. Madrid’s public healthcare system even introduced the instrument to help doctors make faster, more accurate diagnoses. For the more than 300 million people worldwide living with rare diseases, early diagnosis can mean a world of difference: faster treatment, emotional relief and a better quality of life. Sergio is 16 years old today. He can’t talk and needs the care of the clock. Yet, through his journey, his father created a movement that has helped thousands of families and many more. “We have turned our pain into something that gives others hope,” Julián says. “It’s the real power of technology – to make life better.” First published: 28 Apr 2025, 04:18 pm Ist