Utah researchers fast-track medical discovery — with fruit flies

A Utah lab is running sweeping drug experiments to find treatments for rare illnesses, at a low cost — and in months rather than years.

• The test subjects: millions of fruit flies.

Driving the news: University of Utah researcher Clement Chow last year found potential treatments for an ultra-rare congenital disorder by testing existing, approved drugs on his winged menagerie.

• Now, his lab is screening 1,600 drugs to address SYNGAP1, a neurological disorder that causes developmental delays and other serious health problems.

Why it matters: The diseases Chow is studying are extremely rare — there are only about 1,200 known cases of SYNGAP1 in the world — so the customer base for treatments is too small to get drug companies' attention or robust funding for research.

• Patients' families don't have the resources to fund research themselves, or the years it takes to wait for federal grants.
• That makes the extraordinary efficiency of fruit-fly testing a source of hope for families with no other path forward, said Mike Graglia, who founded the SynGAP Research Fund in San Francisco after his son was diagnosed.

How it works: Chow's lab recreates the disorder in the fly's eye, which shows the abnormality clearly, Chow told Axios. Then researchers test a drug to see if the eye responds.

• Fruit flies are closer to human biological complexity than other subjects, like yeast and worms — but far easier and cheaper to acquire than, say, mice. Flies reproduce by the hundreds and are ready for testing in days.

The intrigue: That means the lab can test thousands of drugs within months — at a cost small nonprofits like SynGAP Research Fund can afford, Graglia told Axios.

• There aren’t “enough kids for anyone other than the families to care, unfortunately," said Graglia, whose 9-year-old son requires full-time care. "It's just a bunch of parents raising money to help our kids. But when we go to many researchers, the proposals are 'years' and 'millions.'"

Catch up quick: Chow's lab found multiple potential therapies in a similar screen last fall for Man1b1, a rare metabolic disorder, after a desperate family sought help upon their son's diagnosis, the journal Nature reported in April.

• "We have a drug that's in four different kids now," Chow said. "We finished it at the end of November, and … it looks like the drug is working."

Details: The fruit flies are given everything from Tylenol to anti-psychotic medicine to see what, if anything, works, Chow said.

• Side effects and potential risks of treatments are weighed against the children's symptoms and quality of life, as with any off-label drug use.
• That's no worse than patients' existing options, Graglia said. "What we're doing right now is treating our kids' multiple symptoms with multiple other therapies. The side effects are additive."

What they're saying: "We don't actually understand what most drugs do," Chow said. "They were discovered to do this particular thing that they're approved for, but we don't actually know the biology. … And those of us in this business strongly believe that these drugs have much more potential than what they're being used for."

What's next: The lab is running drug screens for three illnesses now, with six more in preparation.