Gene Therapy to Treat Hemochromatosis

We designed a gene therapy for hereditary hemochromatosis, a genetic disorder that leads to abnormally high iron levels in organs. The dysfunctional gene produces mutated ferroportin, which are proteins that modulate the transport and absorption of iron in and out of cells. This leads to abnormally high iron levels collecting in tissues, and can cause organ failure in various parts of the body including the heart, liver, and pancreas.

Current treatments include phlebotomies (medically removing blood), adding iron chelators to react with excess iron, and silencing genes that produce the transporter. Rather than completely blocking the body from producing it, our gene therapy would instead regularly degrade the transporters. Utilizing Adenovirus Associated Vectors (AAV) to deliver functional copies of the HFE gene to the liver to produce hepcidin, a hormone that degrades iron transporters, the body would be able to modulate iron uptake in a way that mimics the natural process.