The Centre for Biomedical Research Network on Rare Diseases (CIBERER) has awarded a grant of euros 49,000 to investigate in the repair of the mutation that causes waist muscular dystrophy 1F by means of CRISPR/Cas9 at the https://www.iislafe.es/es/" Institute of Health Research La Fe (IIS La Fe). The research project will be developed from this centre, under the direction of Dr. Joan Vílchez Padilla, head of the Neurology Service of the University and Polytechnic Hospital La Fe and the University of Valencia, in collaboration with Dr. Rafael Vazquez Manrique, of IIS La Fe and Dr. Ramón Martí Seves, head of the http://www.vhir.org/portal1/grup-equip.asp?s=recerca&contentid=186864 research group on Neuromuscular and Mitochondrial Pathology of Vall d'Hebron Research Institute (VHIR).Waist muscular dystrophy is a progressive and hereditary disease that is characterized by the weakening of the muscles streaked close to the hips and shoulders. The waist muscular dystrophy 1F is caused by a mutation in the gene of the Transportina-3 (TNPO3) that encodes the protein that carries the HIV virus to the inside of the kernel. Dr. Joan Vílchez, head of the Research Group of Neuromuscular Disease and Ataxias at IIS La Fe, discovered recently that a mutation of the protein Transportina-3, acts as a natural defence mechanism against the AIDS virus, as it prevents the HIV to reproduce.In this work awarded by CIBERER, the objective of the researchers is to use the technique of genetic edition CRISPR/Cas9 to repair the gene mutation that causes the disease. This technique is able to correct and edit the genome of any cell by using the system cut-paste, eliminating the DNA strand where you will find the harmful mutation. But it is not without risks, since the deleted region may have other important functions or removed other parts of the genome that have similar sequences. However, in the case of this disease these problems wouldn't be considered since the causative mutation is located at the end of the gene and causes a lengthening of the encoding in a useless tail that can be removed accurately and without prejudice. The genetic defect that causes muscular dystrophy waist LGMD1F confers resistance to HIV infection, a circumstance that makes possible the existence of a natural model to understand, on the one hand, the origin and development of this rare disease and also the process of cell infection of HIV.With the collaboration of the patientsThe waist muscular dystrophy LGMD1F affects 8 generations of a single family, currently living in the province of Castellón and in Italy. There are very few patients, it is estimated that there are between 100 and 200 people affected, but the disease could be one of the keys to treat another group of patients much more numerous, as are people with AIDS.The http://www.conquistandoescalones.org/web/ Association Conquistando Escalones, of patients with the disease, is very committed to the work of the researchers of La Fe. In the last 2 years, they have financed biomedical research for the treatment of muscular dystrophy waist 1F with euros150,000. An investigation that, in addition, can help save many lives, since the genetic mutation that causes the disease prevents the infection of HIV. Before the end of 2018, the Association Conquerint Graons aims to gather euros220,000 to promote research in this rare disease.