Texas mom helps local researchers find treatments for genetics causes of autism
JUPITER, Fla. (CBS12) —
A revolutionary discovery that could help children on the autism spectrum.
Local scientists at Scripps Research in Jupiter found a genetic explanation as to why some children suffer from sensory processing issues.
CBS12 News found out how researchers got to this point.
It all started with a Texas mother who was looking for answers. She started a Facebook group that caught the attention of scientists here at Scripps Research.
“He was my motivation to find help for him because there was nothing out there for him,” Monica Weldon said.
Weldon’s 10-year-old son, Beckett, has a rare mutation in the SYNGAP1 gene, which hinders healthy brain development.
She said one of the most concerning symptoms is his incredibly high pain tolerance.
Weldon showed CBS12 News a video of Beckett letting his puppy bite on his hand until he bled.
“I ended up sending the video to Dr. Gavin Rumbaugh and said tell me what’s going on in his brain if you can of why these kids are not responding to pain,” Weldon said.
Dr. Rumbaugh with Scripps Research in Jupiter figured out what was behind Beckett’s unusual sensory processing issues.
Rumbaugh and his team conducted tests with mice to see how the gene directly affects sensory processing. He said what they discovery could change lives.
“Because we know the way the brain function is disrupted, now we can think about creating drugs that could fix the way that part of the brain functions. And now that we have this, we can go test it in other types of autism to see if this a common mechanism that might be able to help other people,” he said.
Something Weldon keeps hoping for.
“I do believe we are going to find something and this is a mom gut but I know we are going to find something and it’s not just going to help us it’s going to help others,” she said.
Rumbaugh said they are currently developing molecule screening and hope to start screening individuals sometime next year.