New treatment for rare disease discovered

1 May 2018

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease that leads to abnormal blood vessel formation in the skin, mucous membranes, and in organs including the lungs, liver and brain. Though rare, it affects more than 1.4 million people worldwide and has no cure.

The research focused on endothelial cells (which line the blood vessels and other cardiovascular areas) and how they are affected by key signalling pathways governing cell growth. For people with HHT there are mutations for a key receptor which normally acts as a growth-limiting brake. It does this by acting on the accelerator gene and inhibiting it thereby preventing too much cell growth.

The treatment will involve using a medicine to inhibit the accelerator gene (P13K) for the endothelial cells. These kinds of inhibitors are used in cancer patients or following organ transplants.

Scientists identify a potential treatment for hereditary hemorrhagic telangiectasia