Rare, but Not Ignored

In a glass vial in Salt Lake City, thousands of fruit flies hold secrets that could provide hope for two children in Seattle. The flies have been engineered to carry the same genetic mutation that causes Charlotte and Cooper Hawkins to suffer seizures and lose their ability to walk. Each tiny insect represents a potential clue toward future treatments that pharmaceutical companies will never develop—the market is simply too small. 

Charlotte and Cooper have a disorder so rare that only around a dozen people worldwide share their diagnosis. When diseases affect fewer than 200,000 people, the economics of drug development collapse. Yet more than 7,000 rare diseases affect 10 percent of the U.S. population. The treatment gap leaves individuals with rare diseases with few places to turn. For Jill and Doug Hawkins, that search led to Clement Chow’s lab at University of Utah Health, where he is associate professor of human genetics in the Spencer Fox Eccles School of Medicine.

“Nobody was working on our disorder, and it fell on our family to drive this research,” Jill explains. She founded the FAM177A1 Research Fund with a practical question: “What if there’s a drug sitting on a pharmacy shelf that might work for our diseases, and what’s an efficient way to figure that out?”

Chow’s approach, which began about seven years ago, bypasses traditional drug development by testing hundreds to thousands of FDA-approved medications on fruit-fly models tailored to each rare disease. Despite their differences, flies and humans share about 60 percent of genes known to cause disease, making them ideal for rapid screening. Where pharmaceutical companies might spend years and hundreds of millions of dollars developing new treatments, Chow’s team can test thousands of existing drugs in weeks.

“Repurposing is the best hope for finding a drug in the immediate term for any of these disorders,” Chow says. “For so many rare diseases, the answer is sitting out there, and we just don’t know it.”