Gathering a Prestigious Research Team
The search for a cure involves developing, testing, manufacturing, and delivering a gene therapy tailored to Jojo’s mutation. Ahearn and Bui enlisted three entities to work in tandem on this cutting-edge process. Through Baby KJ’s story, they learned about the Innovative Genomics Institute (IGI), whose role is to create the CRISPR gene editor (a genetic engineering tool used to modify DNA) and determine how to deliver it to Jojo’s cells.
“Initially we weren’t sure if the IGI would be able to work on our project because Jojo’s condition is so rare,” says Ahearn, “but we were fortunate enough to connect with the IGI’s director of therapeutic research and development, Fyodor Urnov, who has been supportive of Stanford’s own budding gene therapy program.”
Once the IGI creates a gene editor proven to work with Jojo’s cells, The Jackson Laboratory will test its efficacy and safety on specially bred mice. Mice are biologically similar to humans and can be reprogrammed to express any number of genetic mutations, making them ideal for testing purposes. The Jackson Laboratory is using genome sequencing and genetic engineering to create mice that have the same SCN8A mutation as Jojo. “The work at The Jackson Laboratory has been going really well,” reports Ahearn. “Several mice were successfully born with the mutation, and these will be bred to create a larger cohort for testing.”
Playing a key role in the process is the Stanford Cardiovascular Institute Biobank (SCVI Biobank), founded by Joseph Wu, MD, director of the Stanford Cardiovascular Institute. The Biobank stem cell study team created the stem cells from Jojo’s blood that the IGI is using to test its gene editor.
Both The Jackson Laboratory and the IGI have helped secure some funding for these efforts, which they hope to scale for future research. The SCVI Biobank now has Jojo’s stem cells in its library of cell samples, which will be studied and shared with researchers around the world to advance scientific discoveries.
“We hope Jojo’s data from these experimental studies can help in making predictive models to create cures for rare diseases sooner, better, and faster,” says Bui.