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EU-OPENSCREEN partner site MEDINA in Madrid launches new research project on treatments for for rare genetic diseases

Fundación MEDINA, Almirall, S.A. (ALM) and the University Carlos III Madrid (UC3M) have launched a project to find new treatments for recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations. The project is partially funded by Spanish Ministry of Science and Innovation Center for Industrial and Technological Development (CDTI).

The TRIDs4DEB (Translational Read-Through Inducers for (4) Dystrophic Epidermolysis Bullosa) project’s aim is to screen patient-derived cells in a phenotypic screening platform to identify chemical starting points that could lead to candidate therapies for the treatment of recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations.

Dystrophic epidermolysis bullosa is a rare congenital disease caused by mutations to the COL7A1 gene. Depending on the intensity of the condition, patients can present fragile skin, blistering, ulcers, skin and mucosal inflammation and other consequences such as infections, malnutrition, and a heightened risk of skin cancer. Nonsense mutations today represent 11% of the mutations underlying human genetic diseases.

“We believe that innovative approaches are essential to find novel treatment opportunities for patients suffering from severe diseases with unmet medical needs. We are convinced that this collaborative research project will add substantial value to our ongoing research efforts to find treatments for this and other severe genetic diseases”, commented Thomas Huber, Research Director at Almirall. Olga Genilloud, MEDINA Scientific Director, emphasized that “this multi-disciplinary project approach is a unique opportunity to contribute with our natural product libraries to the identification of possible starting points for the development of new products to treat this disease.” “It is essential to be able to find new compounds that are more powerful and less toxic than those now in use. We have the tools and capabilities to identify from among the large number of compounds to be tested some that will meet that requirement”, explains the lead researcher for the project at the University, Dr. Fernando Larcher from the Tissue Engineering and Regenerative Medicine Group (TERMeG) in UC3M’s Department of Bioengineering and Aerospace Engineering. Almirall will lead the project, contributing with its compound library, strong capabilities in assay development and its extensive experience in research and development of new drugs.

MEDINA Foundation provides access to its unique library of microbial extracts and its high-throughput screening platform as well as its extensive experience in drug discovery. UC3M’s bioengineering group brings to the collaboration its proven expertise in genetic disease and in the generation of patient-derived in vitro models of epidermolysis bullosa. The CDTI is financing this collaborative program under its individual R&D project financing initiative, created to pursue its mission to promote innovative research in Spain. For more information see here.