Doctor Uses AI to Find Cures for Ultra-Rare Diseases

When doctors told David Fajgenbaum he was out of options and would die from his ultra-rare disease, the 28-year-old former Georgetown quarterback refused to accept it. Lying in a hospital bed with multiple organs failing for the fifth time, he had a desperate thought: seven chemotherapy drugs had put him in remission four times before—what if there was an eighth?

Fajgenbaum had already lost his mother to brain cancer at 19, which inspired him to switch from sports medicine to oncology research. Now he was fighting his own battle with Castleman disease, a condition so rare that pharmaceutical companies saw no profit in developing treatments for it.

Instead of giving up, Fajgenbaum taught himself to read medical research while recovering between organ failures. He started analyzing existing drugs, looking for ones that might work against his disease even though they were designed for other conditions. Using basic computer searches and sheer determination, he found sirolimus, an immune-suppressing drug used in organ transplants.

It worked. For the first time in years, Fajgenbaum went into lasting remission.

But he didn't stop there. Realizing that millions of people suffer from rare diseases with no treatments, Fajgenbaum developed an AI system to do what he'd done for himself—but faster and for hundreds of diseases at once. His program analyzes massive amounts of medical data to identify existing drugs that could be repurposed for rare conditions.

The results have been stunning. His AI has identified potential treatments for more than 60 ultra-rare diseases, conditions affecting people who've been told nothing can help them. Several of these computer-discovered treatments are now in clinical trials, offering hope to patients who had none.

Why This Inspires

Fajgenbaum's story shows how personal tragedy can fuel innovation that helps thousands. He transformed his own near-death experience into a tool that's democratizing medical research, proving that cures for rare diseases might already exist in our medicine cabinets—we just need smarter ways to find them.

His work addresses a cruel reality: pharmaceutical companies focus on common diseases because that's where the money is, leaving rare disease patients behind. By using AI to match existing drugs to new uses, Fajgenbaum has found a way around the profit problem.

Now a professor at the University of Pennsylvania, he continues expanding his AI system while remaining in remission. Every new treatment his computer identifies means another family might avoid the goodbye he once said to everyone he loved.

The weevil thought that burrowed into his half-capacity brain wasn't absurd after all—it was the beginning of hope for thousands.