Developing treatments for genetic diseases caused by nonsense mutations.

Monogenic diseases are all rare diseases but, collectively, they affect 300 million people worldwide. More than 7,000 monogenic diseases have already been described. In each case, a single gene defect impairs in various ways the production of the corresponding protein in its fully functional state, causing the disease.The therapeutic need is huge but there are at present almost no curative treatments.

One way in which the protein production can be affected arises from nonsense mutations (10-15% of patients in average) that lead to the loss of the full-length protein through different mechanisms (click HERE for more details). The ability of specific molecules to restore the synthesis of a full-length protein through a mechanism called READTHROUGH is a new therapeutic approach for such cases (click HERE for more details). Unlike gene therapies that target a single defective gene each, the READTHROUGH approach could be applied in the treatment of numerous genetic diseases since it “fixes” the deleterious mutation through a gene-independent mechanism at the level of the human ribosome, the protein factory in all our cells. Urania therapeutics exploits a unique know-how in ribosome crystallography to develop safe and efficient READTHROUGH compounds through structure-based drug design.