The Translational Genomics group led by Prof. Rubén Artero, from the genetics department of the University of Valencia, is one of the research groups that seek to achieve a treatment for our Limb-girdle Muscular Dystrophy 1F-D2. 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 with the University of Valencia making a payment of € 24,720.00 + VAT (€ 29,911.20), which will cover the next few months of the vital work they are doing.
Characterization of muscle cells from patients
After the first results of the drug screening, of which you can see the details in THIS LINK, the characterization of the muscle cells of the patients has already begun, in collaboration with the group of Dr Vílchez de La Fe de Valencia. conducted testing experiments of drugs that have been shown to be potential candidates for a treatment for those affected by LGMD1F-D2.
First antibody on our mutation
In addition, with this payment, a specific polyclonal antibody on our mutation in TNPO3 (the gene that causes the disease) has been designed for the first time and in collaboration with the CSIC (Higher Council for Scientific Research), so that all the teams in our medical alliance can use it in their studies. This will allow them to locate the mutated TNPO3 more simply and correctly. And of course the aforementioned amount of money that we have paid, also serves to cover, and especially, the salary of the pre-doctoral researcher Águeda Blázquez Bernal, who is in charge of working exclusively on our disease, with the help of by Dr. Ariadna Bargiela, as well as to cover the expenses of the material and reagents necessary for the experiments to be carried out in the Translational Genomics laboratory of the genetics department of the University of Valencia led by Prof. 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 great effort they are making in these times of COVID-19 so that studies on our disease do not stop. Thanks also to all Conquistando Escalones partners, donors and collaborators for helping us raise funds and pay for research. And we ask that you continue by our side, now that despite everything progress is being made more and more, but it is more difficult than ever to raise funds to continue.