RVCL

Underlying the RVCL disorder is a frame-shift mutation in the transmembrane region of the TREX1 gene. What does this mean?

1. RVCL is caused by a genetic mutation
2. RVCL is caused by a genetic mutation in a single gene (TREX1)
3. This genetic mutation causes the TREX1 protein (encoded by the gene) to become “free-floating,” rather than appropriately tethered.

Therefore, the disease could theoretically be addressed by reversing or fixing this genetic mutation. However, genetic manipulations have typically been restricted by what scientists can do to cells outside the body. Advances in recent years are beginning to overcome this barrier and are leading us to a completely new era of being able to treat…and even cure…genetic disorders. Can Correcting the TREX1 Mutation Reverse RVCL?

Read our recent blog post here:
http://ow.ly/ZG5K50K3x8N