AI-Powered Breakthrough: How Tech Helped Cure a Rare Blood Disorder
AI-Powered Breakthrough: How Tech Helped Cure a Rare Blood Disorder
The National Institutes of Health classifies rare diseases as those affecting fewer than 200,000 people in the U.S.
AI is revolutionizing the search for treatments for rare diseases, with scientists around the globe using the technology to explore existing medications for new uses. While drug repurposing itself is not new, machine learning is accelerating the process and offering new possibilities for treating rare diseases with limited treatment options.
At 37, Joseph Coates, living in Renton, Wash., was gravely ill. He had been fighting POEMS syndrome, a rare blood disorder, which caused numbness in his hands and feet, an enlarged heart, and failing kidneys. His condition had worsened to the point where doctors were draining liters of fluid from his abdomen regularly. His health had deteriorated so much that he could no longer receive a stem cell transplant, one of the few treatments that could have put him into remission.
However, Coates’s girlfriend, Tara Theobald, refused to give up hope. She reached out to Dr. David Fajgenbaum, a doctor from Philadelphia whom they had met a year earlier at a rare disease summit.
The next morning, Dr. Fajgenbaum responded, offering an untested combination of chemotherapy, immunotherapy, and steroids as a potential treatment for Coates’s condition.
Within a week, Coates began to show improvement. Four months later, he was healthy enough to undergo a stem cell transplant. Today, he is in remission.
What made the difference wasn’t just the ingenuity of Dr. Fajgenbaum, but an artificial intelligence model that helped identify the drug regimen.
Dr. Fajgenbaum’s team at the University of Pennsylvania, along with other researchers, has been using AI to quickly repurpose drugs for a range of conditions, from rare cancers to fatal inflammatory diseases and complex neurological disorders. The results are often promising.
The National Institutes of Health classifies rare diseases as those affecting fewer than 200,000 people in the U.S. While there are thousands of rare diseases collectively affecting millions of people worldwide, more than 90% of them have no approved treatments. Drug companies are often reluctant to invest in developing drugs for small patient populations due to limited profit potential, according to Christine Colvis, head of drug development programs at NCATS.
The success stories so far have led researchers to ask: How many other potential cures are already within reach, waiting to be discovered?
Source: New York Times
