SPOKE 1 - What is it that we speak of when we talk about genetic diseases?

Since alterations responsible for genetic diseases vary from disease to disease, including the same disease originating from different alterations, different therapeutic approaches are used based on the disease under study. The comprehensive Bench-to-Bedside research activities carried out by Spoke 1 aim to identify the molecular candidates and technological tools needed to bring forth new medicines for patients with genetic diseases. To accomplish this, researchers must first demonstrate candidate effectiveness through experimental models, and once passing safety and efficacy standards, translate these discoveries for human application.

Spoke 1 researchers conduct several projects that offer different strategies for developing “a cure” for genetic diseases. By engineering new-generation viral vectors, which are genetically modified viruses, researchers can deliver a safe and healthy copy of a gene as a “new medicine” directly to diseased cells. Optimizing the technology behind gene editing tools, researchers can modify the DNA of cells directly to correct the defects that cause the disease. By exploiting the capabilities of RNA, which is a DNA-like molecule, researchers can “turn off” disease-causing genes or correct problems at a genetic level. Researchers focus on stem cell-mediated to transform a cell into any other type that can repair or replace damaged ones. Using tiny particles smaller than cells, researchers embark on nanomedicine-based approaches to deliver “new medicines” to the parts of the body that need them.   

In summary, Spoke 1 combines several advanced approaches to create more effective and targeted treatments for genetic diseases, using gene-editing techniques, safe viruses, special cells, RNA molecules, and smart drug delivery systems of microscopic particles.