San José State student Jaedyn Rollins' prize-winning project focused on evaluating a DNA location that could be safe for therapeutic gene insertion for monogenic diseases, like hemophilia A and B, which are bleeding disorders. In these disorders, the patient is missing a single gene, such as FVIII or FIX, that produces a protein that helps with forming the blood clots.
Rollins started her educational journey with an interest in forensic science, but when looking for a lab on campus to help her hone her laboratory techniques she came across the
Johnston Lab, a genome editing lab of Assistant Professor of Biological Sciences Jennifer Johnston, who is also Rollins' faculty mentor.
"Dr. Johnston was extremely welcoming and encouraging, and she was so patient in showing me the techniques," Rollins says. "The idea for this project was actually Dr. Johnston's when she was a postdoctoral fellow at Stanford University. She's had graduate students work on the hypothesis over the years and we made some significant breakthroughs this year."
Rollins' interest in helping people overcome diseases and disorders was amplified when her grandmother was diagnosed with a blood disorder. She has since recovered, but Rollins says the news inspired her passion for this project.
In the lab, students utilize the CRISPR-Cas9 system, which Rollins explains is a molecular scissor that can cut at a precise location in the genome or in DNA so that they can insert a gene for therapeutic purposes. With this strategy, Johnston's undergraduate and graduate researchers hope to change the prognosis of numerous individuals across the globe.
Rollins says they're evaluating a safe spot to insert a gene that won't cause an unintended mutation, which can often lead to cancer or the loss-of-function of an important gene. By inserting a missing or deficient gene, scientists could reverse the effects of monogenic diseases and allow patients to be able to produce that gene's expression on their own rather through injections of the protein that's missing.
“We were able to show that a proof-of-principle fluorescent gene could be expressed at this location," Rollins says. "That gives us really high hopes that this can work with a therapeutic gene like FVIII or FIX for hemophilia, and even other genes for several different monogenic disorders."
Rollins will continue her work with the Johnston Lab this summer and plans to finish her master's degree in spring 2024.