The Conquistando Escalones Association has signed a new agreement with the La Fe Research Institute of Valencia, in order to collaborate financially in the research carried out by said center on Limb-girdle Muscular Dystrophy 1F-D2. For this, a commitment has been made to make a contribution of € 26,400, which will be made effective in two installments.

This aid will cover the hiring of a person with a pre-doctoral degree with exclusive dedication to the research activity carried out in said aimed at the search for therapies for the aforementioned disease. This place will be open to the public and will be announced in the course of the next few weeks for anyone who meets the requirements and wishes to apply for it. The aid will also include execution and consumable expenses.

Current status and progress of disease research at IIS La Fe

The team from the La Fe de Valencia Neuromuscular Pathology and Ataxia Laboratory, led by Dr. Juan Jesús Vílchez, has several interesting avenues of research on Limb-girdle Muscular Dystrophy 1F-D2. In parallel to the clinical studies, a biobank of biological samples and magnetic resonance images is being implemented that will allow us to know in depth the natural history of this disease and thus be able to apply advanced techniques such as RNA sequencing of muscle tissue, perform complex bioinformatic analyzes or undertake in vitro studies in cultured myoblast cell models that will help to understand the causal mechanisms of this dystrophy. The collaboration of patients from the Valencian community, and from other nearby towns such as Murcia and Catalonia, are of vital importance since the highest prevalence of affected people is concentrated in this Mediterranean strip. Both the data records and the results of the biological analyzes will be shared with other international groups interested in researching this disease.

Another important advance achieved in this laboratory has been the development of a cellular model in which the genetic mutation that causes our disease has been safely corrected by Crispr / Cas9 gene editing. There are still many steps for this to be applicable in humans, but it is a very promising advance that will continue to be worked on in the coming months as well as testing the findings in in vitro cells of patients.

Future goals

Immortalized patient cells in collaboration with the team of Dr Vicente Mouly, from the Institute of Myology of the Sorbonne University in Paris, will be sent to the rest of the researchers involved in the work of achieving a cure for Limb-girdle Muscular Dystrophy 1F-D2, among other things, to test already in patient cells the drugs that have given positive results in animal models characterized with the disease.

In collaboration with the University of Oxford and the Prince Felipe Research Center of Valencia, the RNA sequencing of muscle biopsies of patients will be carried out in early 2021, something vital to understand how the disease works in the genes and the expression of the same and thus understand the cause of the disease. Roughly, it could be exemplified that if DNA is the hardware of a patient, RNA is the software.

This will mean an outlay of about € 20,000 by Conquistando Escalones, so we cannot stop working despite the times, in order to raise funds and everyone’s help to achieve this is vital. In the coming weeks we will also publish payments to be made and progress of the other research centers involved, with which we are working on bureaucratic procedures in order to renew agreements and contracts.

Apart from the aforementioned within future objectives, the La Fe IIS  will continue working on the aforementioned ways of correcting the mutation by genetic editing, coordinating with the rest of the researchers for the use of the samples that they process and continue with the characterization of the different profiles to better understand the variability of the disease, how it attacks and how to use this information against it and efficiently carry out the compound test in humans. For all this to advance, the hiring of the person who will be carried out thanks to the signing of this agreement is vital.

We want to thank Javier Poyatos, Inmaculada Azorín, Maria Pilar Martí, Laura Martínez-Vicente, Nuria Muela and Rafael Vázquez as well as the rest of the team involved in one way or another in the work that is being carried out at the IIS La Fe. Pese To all the problems created by the covid19 (starting with the closure of the laboratory for months), it is worth praising all the work and progress that Dr Vílchez’s team, led by him, have managed to carry out in the last year.