RNA - Genetherapys

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

 

The scope of genetic diseases is a broad subject to undertake. Therefore Spoke 1, led by the University of Modena and Reggio Emilia, focuses its research across six disease groups based on the main organ involved, skin, blood, eye, storage disease, kidney, and neuromuscular and neurometabolic disorders. Alongside the University of Modena and Reggio Emilia, those conducting the study of these genetic diseases include the universities of Bari (Aldo Moro), Bologna, Cagliari, Milan, Naples (Federico II), Padua, and Siena, as well as the Telethon Institute of Genetics and Medicine (TIGEM) and biopharmaceutical partner the Chiesi Group.

 

Most defined as incurable, genetic diseases globally affect between 6 and 8% of the population. Having said that, it is important to clarify what we are talking about when we speak about genetic diseases. By genetic, we mean a broad category of diseases linked to permanent alterations of DNA, called mutations, which irreversibly modify the genetic content of cells. Some alterations are silent mutations, which means they will have little to no observable effect on the body or quality of life, while other alterations strongly affect the lives of patients. Among the most common genetic diseases are cystic fibrosis, Duchenne muscular dystrophy (DMD), and various hereditary anemias including sickle cell anemia.

 

 

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.

 

 

“We have the responsibility to extend the benefits of our research to all patients, especially those suffering from rare diseases. The Spoke 1 research project foresees joint research and development paths with the business world to ensure that scientific discoveries become real therapeutic solutions.” Says Prof. Antonello Pietrangelo, Spoke 1 scientific coordinator.

 

Written by

the Foundation’s editorial staff

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