It can be undoubtedly difficult to identify therapies for rare diseases. Between the cost of research, the small population sizes, and the time required, the drug development process can take years. But a University of Utah researcher named Clement Chow is trying to revamp the process using fruit flies.
According to an article from Erin Alberty in Axios, Chow once discovered potential treatments for a rare congenital disorder of glycosylation called Man1b1 through his fruit fly research. Now, he is using fruit flies to screen therapies that could be effective for SYNGAP1.
What is SYNGAP1?
Caused by SYNGAP1 gene variants, SYNGAP1 is a rare genetic neurological disorder characterized by intellectual disability. Symptoms and severity appear on a spectrum. Children may have mild, moderate, or severe intellectual disability, developmental delays and regression, hyperactivity, epilepsy, autism spectrum disorder, and hypotonia (low muscle tone). Right now, there are no cures or disease-specific treatments. Occupational, speech, physical, behavioral, and rehabilitative therapy may be used to manage this condition.
Treatment Identification
Fruit flies are easy to study, easy to reproduce, and offer a great exploratory setting for genetics research. The flies being studied for SYNGAP1 have the genetic variant recreated ocularly. Within Chow’s laboratory, he is screening more than 1,600 potential drugs on these flies. These drugs vary from antipsychotics and Tylenol to more unique or targeted therapies. All in all, shares Chow, the goal is to understand what might have an effect on the flies—and, later, on humans.
One of the benefits of this type of research is identifying potential therapies on a faster and more efficient basis. By testing on fruit flies, Chow sees what drugs could potentially be repurposed. Instead of taking years to evaluate potential therapies, this work can screen thousands of potential treatments in just a few months. If drugs are then recommended for further testing, it means that they get into the hands of those who need them earlier.
In the future, Chow also hopes to run similar studies for other conditions.
