‘Eye of the fly': How fruit flies could help find treatment for a rare genetic disease
‘We concluded that the best way for us to help was to fund research,’ Mike Graglia said
When Mike Graglia's then 4-year-old son Tony was diagnosed with a rare genetic disease in 2018, the couple immediately began talking to anyone they could to figure out how to best help their child.
Little did Graglia and his family imagine that the answer to that question could potentially be found within the eye of a fruit fly.
"We concluded that the best way for us to help was to fund research," Graglia said. "We thought we would raise some money and spend some of our own money and invest in science and that has remained true."
SynGAP-1 is an extremely rare genetic disease — there are 1,215 known patients today — where patients experience symptoms such as developmental delays, autism, epilepsy, seizures, inability/trouble walking and communicating, aggressive/behavioral problems, sleeping issues and a myriad of other challenges due to an inefficient amount of the SynGAP-1 protein in the brain.
Graglia said that he recently heard from a family whose child was having around 100 seizures an hour.
"You try getting anything done on your computer if it's rebooting a hundred times an hour and imagine if that was your brain," Graglia said. "These kids, they don't sense danger, they're not intellectually mature, they have challenging behaviors, they can have seizures, so they can hurt themselves and others and they basically need to be cared for 24/7."
"It's a massive burden on families (and) it's a massive burden on schools and even though they're challenging, they're just good kids."
Eventually, Graglia and his wife, Ashley Evans, founded the SynGAP Research Fund to help Tony and others suffering from SynGAP-1 and related diseases. Now, the nonprofit is what Graglia described as a "full-blown patient advocacy organization."
"Somewhere in there I left my job and I now do this full-time as a volunteer, running the operations of SRF (SynGAP Research Fund)," Graglia said.
This course has led Graglia, Evans and their organization to the Beehive State, where they awarded the University of Utah's Department of Human Genetics, led by Clement Chow, a $65,000 grant to run drug screens to determine whether any existing FDA-approved drugs have a positive impact when it comes to treating SynGAP-1.
Chow's method for testing these drugs is both cost-effective and efficient due to a novel test subject for the drugs: Fruit flies.
The same annoying pests that call the fruit bowl on your counter home are a cheaper alternative and easier to test quickly than, say a literal lab rat.
"They're cheap and they're small and they have short life spans," Chow said. "Those are kind of the main reasons why we love fruit flies in biomedical research.”
Additionally, Chow said that since the fly is a living organism, testing the drugs on the fly asks more of the drug than using it with a cell in a petri dish.
"Here we're asking, given a whole living organism that's sick, it (a drug) gets eaten, it gets taken in, it gets metabolized correctly ... and it gets to the brain," Chow said. "Does it have an effect? That's really what we want to do."
The amount of SynGAP-1 in fruit flies can be determined by looking at the shape and color of the fly's eye. Thus, Chow is able to test which drugs, if any, have a positive impact. This is determined based on whether the eye returns to normal after the fly that has SynGAP-1 ingests a drug.
Essentially, Chow can literally see if a drug is working.
"The eye of the fly is perfect," Chow said "We can basically create a model of SynGAP-1 in the eye of the fly, so it's like a model within a healthy animal and then we can raise these animals on drugs and simply ask, 'Do the drugs correct that eye defect that we see?'"
For Graglia, the speed and accuracy with which Chow is able to determine the efficacy of certain drugs is paramount.
"We're going to be able to very quickly make sure there isn't a drug on the shelf right now that could be helping our kids," Graglia said.
So far, Chow said the drug screening is going well and he and his team are around a quarter of the way through the screening, adding that they will screen a total of 1,600 drugs in the whole process.
As someone who has devoted their life to raising money to help families dealing with SynGAP-1, Graglia said that it can be nerve-wracking to give large sums of money to researchers.
"Sometimes science just goes nowhere. That's just life," Graglia said. "When I find someone like Dr. Chow whose focus is helping people ... it's a gift for people like me to be able to have labs to work with where we think we're getting closer to helping our kids."