If you’ve been following our blog, you would know that we have been chronicling the progression of CRISPR/Cas-9 and the advancements that have been made so far, as well as the massive potential it holds for the future. In case you haven’t read them, or want to refresh your memory, start here to read the intro on CRISPR, here to read how we are closer to human trials, here to see how CRISPR has the potential to treat sickle-cell disease, and here to see how a Chinese scientist is on the quest to treat an incurable lung disease using CRISPR. All caught up? Great! Continue reading below to see the newest progress with CRISPR.
So as you know by now, CRISPR/Cas9 is a powerful genome editing that is showing promise for efficient correction of disease-causing mutations. For the first time, researchers from the Perelman School of Medicine at the University of Pennsylvania have developed a dual gene therapy approach to deliver key components of a CRISPR/Cas9-mediated gene targeting system to mice to treat hemophilia B.
According to the Centers for Disease Control and Prevention, hemophilia in general occurs in approximately 1 in 5,000 live births and there are about 20,000 people with hemophilia in the United States. The disorder is also called factor IX deficiency and is caused by a missing or defective clotting protein, which means that if a patient with this disease gets even a minor cut or bruise, hemorrhaging can occur.
The UPenn team used the CRISPR/Cas-9 approach on a mouse model in which the clotting factor IX was knocked out. The team used a 2 vector approach; 1 vector targeted the liver, the site of factor IX synthesis, while the other vector contained an RNA sequence that specifically targeted a region at the 5-prime end of exon 2 of the mouse factor IX gene and a partial human factor IX cDNA sequence, which gave this approach more potency and accuracy.
The team monitored the production of Factor IX in the mice over the next few months and noted stable protein activity at or above the normal levels. “Basically, we cured the mice,” said first author Lili Wang, PhD, a research associate professor in the Penn Gene Therapy Program (GTP).
This groundbreaking research opens the door to an incredible variety of experiment that can potentially cure other mutation-causing diseases. Stay tuned to find out more!