New paper on splicing in CLL out in JCI Insight!

We are thrilled to announce our latest publication, a successful collaboration with the labs of Dr. Lili Wang and Dr. Catherine Wu!

This study investigated why the combination of a SF3B1 gene mutation and a chromosome 13q deletion (del(13q)) leads to a more aggressive form of chronic lymphocytic leukemia (CLL).

Using mouse models, researchers confirmed that while del(13q) initiates the disease, the SF3B1 mutation accelerates CLL's progression. They discovered that the mutation causes errors in RNA splicing, which improperly activates the mTOR and MYC cancer-promoting pathways.

Crucially, the study showed that simultaneously using drugs to inhibit both the faulty RNA splicing and the mTOR pathway effectively killed the CLL cells. This research provides a strong rationale for a new therapeutic strategy targeting these two pathways in high-risk CLL patients with both genetic alterations.

Link to the study: https://insight.jci.org/articles/view/184280