Jake Litvag leaned in for a closer look as a lab mouse scurried around an enclosure, stopping to sniff a large block.
“Hi, Jakob 1. I’m Jake,” the 16-year-old said, naming the little furry creature engineered to have the same genetic abnormality he has.
That mouse and its lab-grown relatives are the first in the world to mirror the missing gene that causes Jake’s autism. Scientists at Washington University in St. Louis bred the mice, and grew stem cells derived from Jake’s blood, to study and find ways to treat his rare disorder – and look for answers to the larger puzzle of autism.
[Researcher Joseph] Dougherty and his colleagues hope what they learn about how MYT1L functions ultimately leads to medicines or gene therapies that improve or even correct the problems the mutation causes.
They are sharing their findings with scientists studying other autism-causing genes or trying to figure out how various genes work together to cause the condition.
According to the Simons Foundation Autism Research Initiative, more than 100 genes have strong evidence linking them to autism and a growing list contains several hundred more genes thought to be linked to the condition.
