Research into new treatments for rare genetic diseases

The University Carlos III Madrid (UC3M), Almirall, S.A. (ALM) and the MEDINA Foundation 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 the Spanish Ministry of Science and Innovation's Center for Industrial and Technological Development (CDTI).

The TRIDs4DEB's (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 with 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.

"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.

"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, Director of Science at MEDINA Foundation emphasized that "a multi-disciplinary project approach is a unique opportunity to contribute our natural product libraries for the identification of possible starting points for the development of new products to treat this disease."

Almirall will lead the project, contributing 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 one-of-a-kind library of microbial extracts and its high-screening capacity platform as well as its extensive experience in drug discovery. 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. UC3M's bioengineering group brings to the collaboration its proven expertise in genetic diseases and in the generation of patient-derived in vitro models of epidermolysis bullosa.

Provided by Carlos III University of Madrid