Groundbreaking research out of the Scripps Research Institute in Jupiter found a genetic explanation for the pain processing and sensory issues some children living with autism face.
"To see the biology in the lab turn out that has parallels to what’s going on in these children takes it so far beyond just an academic endeavor," said Dr. Gavin Rumbaugh, a neuroscientist at Scripps. "You go home every day thinking, unbelievably, I may actually be making a difference in someone's life."
One of those children who Rumbaugh hopes to help with his research is 10-year-old Beckett, who lives in Texas.
"We wanted to understand generally in the lab how genes like SYNGAP1 affect the way the brain functions and we thought what better way was then to look and see how this gene may directly affect sensory processing and then further on ask the question does the change in sensory processing actually lead directly to learning, memory and behavioral impairment," he said.
Beckett has a genetic mutation of SYNGAP1, which researchers have now found causes certain issues he faces, particularly, having an extremely high pain threshold, while also experiencing heightened sensitivity to another kind of stimuli. Beckett and other children living with this genetic mutation also often have epilepsy.
"It's all about quality of life. Everybody deserves to live their best life and that's my mission," said Monica Weldon, Beckett's mom.
Weldon said the research being done in Jupiter could change her son's life and the lives of hundreds of other children around the world whose families she's connected with online with the same genetic abnormality and symptoms.
"That is the power I believe of a patient group that is motivated to find treatments for their loved ones," Weldon said. "Also, you've got scientists who are listening. They're willing to listen and they're willing to learn."
The next step in Rumbaugh's research is to look at treating the symptoms from the genetic mutation.
