Drew Dixon
The University of Florida has received a five-year grant to research a rare brain disorder and develop a drug addiction to mitigate the condition and other health concerns.
The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology received a $7.7 million grant from the National Institute of Mental Health to conduct studies on a condition that results in a damaged gene among children. SYNGAP1 is a condition that involves a damaged gene needed for normal brain development among children and can result in seizures, sensory process disorders, difficulty speaking, and other conditions similar to Autism. There are no treatments for the disorder.
The ultimate objective of the UF research project is to develop a drug that could restore normal SYNGAP1 function.
“Seizures can be induced in these children by something as simple as eating the wrong texture of food,” said Gavin Rumbaugh, a neuroscientist at the UF Biomedical Institute. “The benefit of a medication you could take as a pill is that the dose could be adjusted as the children grow.”
The condition is considered rare among medical experts. According to a UF news release, about 200 babies are born each year in the U.S. with a SYNGAP1 mutation. The condition was discovered in 2009, and since then, more than 1,000 people have been diagnosed with it.
“Children born with the most serious SYNGAP1 mutations may have many seizures a day, difficulty walking, difficulty communicating, and difficulty sensing pain. Some require caregivers for their entire lives,” Rumbaugh said. “It’s only in recent years, with more available genetic sequencing and social media, that families have begun to find each other, enabling studies that estimate the prevalence of the mutations.
“Our work has shown that SYNGAP1 is a potent activator of neuroplasticity, or the ability to make new connections based on experience,” Rumbaugh said. “Because our experimental therapeutics stimulate SYNGAP1 expression, we expect that if our development process creates drug candidates with the desired properties, they will be useful in the SYNGAP1 genetic disorder, but they may also assist with other disorders that affect intellectual functioning.”
Courtney Miller, another scientist, and director of academic affairs at the UF Institute, said research at the facility on the condition would augment experts working in neuroscience with the ability to collaborate with other researchers to design medicines to address the condition.
“To create a safe and effective first-in-human drug for the clinic, a lot of work must be done on the original molecule,” Miller said. “This is a well-defined, iterative process of modifying the starting molecule, measuring how that affects the drug’s properties, like the ability to get into the brain, followed by ensuring it will be well-tolerated in humans.”
