I have been proposing the concept of Power of Rare Disease. Many rare diseases are caused by mutations in the specific genes. The abnormal molecular wiring emanating from the genetic mutations can lead to multiple manifestations. In the case of Wolfram syndrome, downstream manifestations are diabetes, optic nerve atrophy, and neurodegeneration. The downstream consequences are difficult to manage.
However, there is a chance here. If we target the upstream molecular wiring, all the downstream symptoms may be resolved. If we can cut the wiring between gene mutations and the upstream biological event directly connected to these mutations, we can stop the vicious cycle and delay the progression. If we can “rewire” and connect abnormal gene to the right biological event using a molecular prosthesis, we can cure the disease. This is the concept I am proposing, and my design for developing new therapies is aligned to this concept. I welcome any feedback from you.
I hope you have a wonderful Sunday.