The team led by Dr. Rubén Artero, from the department of genetics of the University of Valencia, is one of the research groups that seek to achieve a cure 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 in our disease and those that could provide a palliative that helps us to improve the quality of life until the final cure arrives.

At the end of 2018, we renewed the agreement of a work that has been done for more than a year, making a payment of € 19950 + VAT, which will cover the next months both personnel and necessary laboratory equipment. In the last months we have worked on the development of the tracking of existing drugs in the market to test drosophiol fly models characterized with our disease. Different compounds have been tested, obtaining positive drugs for tracking. We have deepened and obtained knowledge of the mutant protein that causes our disease and immunizes against HIV, at cellular levels, studying autophagy and mitochondria, as well as performing metabolic studies. All these results open new avenues of investigation to understand the mechanism of molecular pathogenesis of the Limb-girdle Muscular Dystrophy 1F.

The next months of work will be focused on tracking massively, drugs in the flies characterized with our disease, as well as, with the collaboration of La Fe, testing directly on our cell cultures. Genetic studies will also be carried out to determine the alterations and continue with the other lines of work to deepen the discoveries made and use the discovered to corroborate its effects as possible treatments for the disease. Part of the results obtained in recent months have been presented at the International Congress “New Directions in Biology and Disease of Skeletal Muscle Conference” in New Orleans.

We want to thank Dr. Rubén Artero, Dr. Juanma Fernández, Dr. Águeda Blázquez and the rest of the team from the department of genetics at the University of Valencia, not only their work and commitment, but their human quality and their support and collaboration in the events and campaigns that we do to raise funds. As well as all the partners of Conquistando Escalones, donors, collaborators and everyone who attends our events, for helping us raise funds and pay for research.

2019-01-16T21:35:44+02:00 January 8th, 2019|

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