🦾 AI saved Joseph Coates' life - and can save millions more

• Researchers are using AI to find new uses for existing drugs that can treat rare diseases.
• Joseph Coates survived a deadly blood disorder thanks to a treatment identified by an AI model.
• Dr. David Fajgenbaum, who previously saved his own life by finding a new use for an existing drug, now leads an organization that uses machine learning to compare thousands of drugs against over 18,500 diseases.

From death sentence to recovery

Just over a year ago, Joseph Coates, 37, was told he only had one choice left - whether he wanted to die at home or in the hospital, writes the New York Times. He was suffering from a rare blood disorder called POEMS syndrome that had caused numbness in his hands and feet, an enlarged heart, and kidney failure. Doctors regularly needed to drain liters of fluid from his abdomen. He was too sick to undergo a stem cell transplant - one of the few treatments that could put him into remission.

"I gave up. I just thought the end was inevitable," Coates says.

But his girlfriend Tara Theobald refused to give up. She sent an email begging for help from doctor David Fajgenbaum in Philadelphia, whom the couple had met at a rare disease summit a year earlier.

The next morning, Fajgenbaum replied with a suggestion for an unconventional combination of chemotherapy, immunotherapy, and steroids previously untested as a treatment for Coates's disorder. Within a week, Coates was showing signs of improvement. In four months, he was healthy enough for a stem cell transplant. Today, he's in remission.

The lifesaving drug regimen wasn't thought up by the doctor, but generated by an AI model.

New uses for old drugs

In laboratories around the world, scientists are using AI to search among existing medicines for treatments that work for rare diseases. Drug repurposing is not new, but the use of machine learning is speeding up the process - and could expand treatment possibilities for people with rare diseases and few options.

Thanks to versions of the technology developed by Fajgenbaum's team at the University of Pennsylvania and elsewhere, drugs are being quickly repurposed for conditions including rare and aggressive cancers, fatal inflammatory disorders, and complex neurological conditions.

The National Institutes of Health defines rare diseases as those which affect fewer than 200,000 people in the United States. There are thousands of rare diseases, which altogether affect tens of millions of Americans and hundreds of millions of people around the world. Yet more than 90 percent of rare diseases have no approved treatments.

"There is a treasure trove of medicine that could be used for so many other diseases. We just didn't have a systematic way of looking at it," says Donald C. Lo, former head of therapeutic development at the National Center for Advancing Translational Sciences and a scientific lead at Remedi4All, a group focused on drug repurposing.

A personal struggle becomes a global solution

The first time David Fajgenbaum repurposed a drug, it was in an attempt to save his own life. At 25, while in medical school, he was diagnosed with a rare subtype of Castleman disease, which led to an immune system reaction that landed him in the intensive care unit.

There is no one way to treat Castleman disease, and some people don't respond to any of the available treatments. Fajgenbaum was among them. Between hospitalizations and rounds of chemotherapy that temporarily helped, Fajgenbaum spent weeks running tests on his own blood, reviewing medical literature, and trying unconventional treatments.

The drug that saved Fajgenbaum's life was a generic medication called sirolimus, typically given to kidney donation recipients to prevent rejection. The medication has kept his Castleman disease in remission for more than a decade.

In 2022, Fajgenbaum established a nonprofit called Every Cure, aimed at using machine learning to compare thousands of drugs and diseases all at once. At the University of Pennsylvania, Fajgenbaum's platform compares approximately 4,000 drugs against 18,500 diseases.

Success stories

Luke Chen was skeptical when Fajgenbaum's model suggested he treat a patient with Castleman disease using adalimumab, a medication typically used to treat arthritis, Crohn's disease, and ulcerative colitis.

"I didn't think it was going to work," said Chen, a hematologist and professor at Dalhousie University and the University of British Columbia.

But the patient had already undergone chemotherapy and a bone marrow transplant and had tried drugs including the one that saved Fajgenbaum's life. Nothing worked, and he was entering hospice.

With no other options, Chen gave the patient the adalimumab. In a matter of weeks, the patient was in remission.

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