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 shaking during a bath, panic set in. What followed was an exhausting 10-month search for answers, filled with hospital visits, misdiagnoses, and heartbreaking uncertainty. Sergio was eventually diagnosed with Dravet syndrome, a severe neurological condition that causes frequent and dangerous seizures. But by then, he had already suffered greatly.
Who is Julián Isla?
Julián, a software engineer at Microsoft in Madrid, realised something powerful: technology, especially AI, could help stop other families from going through the same nightmare.
“We felt so much fear and uncertainty. It was heartbreaking to waste time visiting doctor after doctor without answers,” Julián says. “I knew there had to be a better way.”
How AI came to the rescue?
In 2017, determined to make a difference, Julián co-founded Foundation 29, a nonprofit focused on using artificial intelligence to speed up the diagnosis of rare diseases. AI could gather and analyse the massive amounts of data that doctors often struggle to piece together on their own.
At a Microsoft event, Julián heard CEO Satya Nadella speak about his own experiences with a child who had special needs. Feeling a deep connection, Julián sent Nadella an email sharing his story — and within five minutes, Nadella replied, connecting him with Microsoft’s healthcare teams.
What is DxGPT?
That collaboration helped bring DxGPT to life. Built with Microsoft’s Azure OpenAI Service, DxGPT uses powerful AI models like GPT-4o to help diagnose rare diseases. Patients can simply input their symptoms and, within minutes, receive a list of possible conditions. It is free to use, respects privacy, and acts as a starting point for doctors to confirm diagnoses with further tests.
Since its 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 has even introduced the tool to help doctors make quicker, more accurate diagnoses.
For the over 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.
Today, Sergio is 16 years old. He cannot speak and needs round-the-clock care. Yet, through his journey, his father sparked a movement that has already helped thousands of families and many more to come.
“We have turned our pain into something that gives hope to others,” Julián says. “That’s the real power of technology — to make life better.”
