Conquistando Escalones finances with €30,000 the RNA sequencing of patients with Limb-girdle Muscular Dystrophy 1F/D2

The Asociación Conquistando Escalones has funded the transcriptomic analysis (also known as RNA sequencing or RNA-Seq) of muscle from 20 patients affected by Limb-girdle Muscular Dystrophy 1F/D2 (LGMDD2) with 30,000 euros.

This study has been carried out by a specialized laboratory in Cambridge, but managed and organized by the Neuromuscular Pathology group of the La Fe Health Research Institute in Valencia, led by Dr. Vílchez.

In the quest to learn more about how the disease works and how it is treated, this step was vital and it has finally been carried out despite its high cost. This has been, on the one hand, thanks to obtaining muscle from patients who have generously donated it, as well as all the tireless work of the association in fundraising and all the partners and donors who collaborate.

This type of analysis can allow researchers to understand certain causes of the disease, elements that are not seen in DNA and that can shed light on diseases such as Limb-girdle Muscular Dystrophy 1F/D2 with so much clinical variability observed between patients. Why do you wake up at different ages, is there different progression, severity, etc.

It will make it possible to study at the RNA level the cellular and molecular pathways involved in the disease and may serve to find new therapeutic targets and contribute to the search for treatments.

And all the centers and laboratories involved in LGMDD2 research will have access to the results, which will be known in the coming months.