The Translational Genomics group led by Dr. Rubén Artero, from the department of genetics at the University of Valencia, is one of the research groups that seek to achieve a treatment for our Limb-girdle Muscular Dystrophy 1F. In coordination with the rest, it is one of the first groups that formed the medical alliance that works on our disease and those that could find a palliative that helps us improve the quality of life until the definitive cure arrives.

We have just renewed the agreement by making a payment of € 15,555.56 + VAT (€ 18,822.23), which will cover the next months of the vital work they are doing. After much work, they managed to develop and characterize a model of our disease in Drosophila (vinegar flies), expressing our genetic mutation in fly muscle and motor neurons. LGMD1F flies show reduced locomotor capacity and progressive muscle degeneration, reproducing the key symptoms of the disease in humans.

The next objective has been to screen different drug libraries in the developed animal model. If any of the drugs tested in the LGMD1F animal model improve symptoms, it would be proposed as a candidate to treat our disease. Also, since these drugs are already marketed to treat other human diseases, their repositioning to treat our disease shortens time and investment, compared to creating a de novo drug. A couple of months ago we shared a video so that you could know how this screening was done. As we told you in the previous update, this was stopped by the closure of universities due to the coronavirus. But we are pleased to announce that several candidate drugs have already been found to treat Limb-girdle Muscular Dystrophy 1F, which have improved the disease in the Drosophila model. This is a beacon of hope for all patients and an important moment in the journey that we began a few years ago when we formed the association and began to raise money to carry out research. Add that, this finding has been achieved after testing a part of the compounds and the screening will continue in the coming months. Of course, automatically to the joy of the news, accompanies a call to caution. Before the long-awaited moment arrives that these drugs can be administered in humans, the validation of the candidate drugs in an in vitro model, using cells from the patients themselves, and subsequent clinical trials must be carried out.

While the rest of the compounds are still being screened, these tests will be started on the drugs that have proven to be possible candidates for a treatment in collaboration with the other research centers involved. Also, from the University of Valencia, work will continue in other ways such as the identification of molecular factors or cellular pathways that could be affected by the expression of the mutation, through RNA analysis (among others).

The payment of the aforementioned amount serves to cover, mainly, the salary of the pre-doctoral student Águeda Blázquez Bernal, who is in charge of working exclusively on our disease, with the help of Dr. Ariadna Bargiela, in the coming months. as well as to cover the expenses of the material and reagents necessary for the experiments that will be carried out in the Translational Genomics laboratory of the genetics department of the University of València led by Dr. Rubén Artero. We want to thank them and the rest of the department for all their work and dedication, both professional and personal. And the titanic effort that they have carried out in times of COVID-19. Thanks also to all Conquistando Escalones partners, donors and collaborators for helping us raise funds and pay for research. And we pray that you will remain by our side as we take giant steps in research, but it is more difficult than ever to raise funds for it to continue.