AI and the ‘odyssey of diagnosis’

Three months after Julián Isla’s son Sergio was born, the infant’s arms and legs suddenly began to shake and his body stiffened during a routine bath. 

Distressed, the parents rushed their baby to the hospital, embarking on a seemingly endless journey from one doctor to another in search of answers. It took over 10 months of anxiety, uncertainty and missed treatment to get a final diagnosis: Dravet syndrome, a severe neurological condition mostly affecting young children.  

It was an odyssey of pain no other parent or patient should have to endure, Isla told himself. 

“I had a thorn in my side from my son’s experience, and couldn’t understand why no technology was being used,” says Isla, as he remembers those stressful days. “We felt fear and uncertainty. We spent time and money visiting many specialists, trying to find an answer.”  

Sergio was initially misdiagnosed and given improper treatment, resulting in him experiencing 20 seizures in a single day. Isla recognizes the challenges the system presented to the physician. “He did what he could with the tools he had,” he reflects. 

As a software engineer working for Microsoft in Madrid, Isla believed that technology, particularly AI, could help make a difference in diagnosing rare diseases such as Dravet syndrome — saving precious diagnosis time and alleviating patients’ travails. He had an idea that could provide patients and doctors alike with a very precise diagnosis in a few minutes.

AI and the ‘odyssey of diagnosis’

“I want to provide diagnoses for those without one. It’s achievable. Microsoft has the technology to make it happen. (…)”

Isla believed that technology, particularly AI, could help make a difference in diagnosing rare diseases. Photo by Borja Merino for Microsoft.

After the diagnosis, Isla quickly became one of Spain’s main advocates for rare diseases, championing better understanding and fighting for improved treatments for these little-known illnesses. As the years passed, he realized that computing could be a perfect ally, given that diagnosing rare diseases requires gathering and analyzing vast amounts of data and symptom information.  

“AI is a facilitator,” Isla says, reflecting on what he calls “the odyssey of diagnosis.”  

In 2017, when Sergio was 9 years old, Isla co-founded Foundation 29, a nonprofit organization dedicated to leveraging AI for healthcare innovation. That same year, Isla forged a momentous, if improbable, connection with Satya Nadella, Microsoft Chairman and CEO. 

At a Microsoft event, Nadella shared the story of his son, who was born with cerebral palsy, and how technology could assist those with special needs. Isla, watching online, was deeply moved. 

Isla immediately wrote to Nadella, explaining how his son’s disease had also profoundly changed his life. 

“I want to provide diagnoses for those without one. It’s achievable. Microsoft has the technology to make it happen,” Isla wrote in his email. Nadella responded within five minutes, connecting Isla with Microsoft teams focused on AI-driven healthcare solutions. 

Creating a tool for rapid diagnosis

The team at Foundation 29 first developed a clinical-grade diagnostic device using relatively simple AI algorithms. By 2023, they had created DxGPT, a more advanced tool built on large language models and hosted on Microsoft’s Azure Cloud platform. 

DxGPT runs on Azure OpenAI Service, which provides access through Azure to OpenAI language models. Isla’s tool uses GPT-4o and o1 models, which are fast but also more efficient in delivering accurate responses. They are trained with publicly available information, including medical and clinical data, and exclusive data partnerships. Clinical tests of the tool have passed through the evaluation of the ethical committees of the hospitals and the application has had a GDPR compliance evaluation. 

The tool is available for free on the internet and people can input prompts about their symptoms to get a summary of potential diagnoses. It does not store any information or request personal data such as names, surnames or addresses. The initial list is a starting point that physicians can then use to refine the diagnosis through clinical data, lab tests and other additional information.  

Rapid diagnosis helps provide peace of mind, as patients understand what they are dealing with and can quickly connect with others in similar situations. 

A tool to help patients globally

Over 300 million people — or 3.5% of the world’s population — live with rare diseases, according to global advocacy group Rare Diseases International. There are more than 10,000 rare diseases identified, including conditions like hemophilia and cystic fibrosis, for example. More than 70% of rare diseases are genetic and start in childhood, often from healthy parents. Most of these conditions are severe and have a significant impact on affected children’s quality of life.  

To date, DxGPT has been used by over 500,000 people globally — from the U.S. to Europe, India and China. Since late 2023, Madrid’s public healthcare system has used an adapted version of the tool in its clinics to help doctors diagnose rare symptoms in adults and children. 

So far, over 6,000 doctors in Madrid have access to the tool, according to the regional government. The tool integrates into the healthcare process and directs patients to the next step post-diagnosis. It will be introduced in two major hospitals in Madrid later in 2025. 

The transformative power of technology

Microsoft has been assisting Isla by providing regulatory advice and technological guidance to the foundation’s team of software developers. Additionally, the foundation receives an annual grant to utilize Microsoft Azure services, Isla said. 

Isla looks forward to continually improving and expanding DxGPT’s capabilities, aiming to introduce it into other European healthcare systems soon. Another goal is to make the tool available in Azure Marketplace, empowering physicians worldwide. 

Sergio, Isla’s son, is now 16 years old. He cannot speak and requires 24/7 care. He may not be aware of the advocacy work his father has done for others like him and their families. But without knowing it, he has already left a legacy through his father’s efforts. 

“We have transformed a personal problem into something that can help others,” Isla says. “It fills you with satisfaction. Being able to do something for others is rewarding.” 

Microsoft Blog. J. M.