Dr. Ramon Martí, coordinator of the group of Neuromuscular and Mitochondrial Pathology at the Vall d’Hebron Institut de Recerca (VHIR) and at Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) leads a pioneer project which aims improving the knowledge about rare mitochondrial diseases.

“The project will let us know better the consequences of the mitochondrial dysfunctions in a mouse model, which will help to understand the physiological mechanisms of other similar diseases. The divulgation of the results obtained in this project and the availability of the generated mouse will contribute to generate synergies that will benefit, mid or long-term, patients who suffer this kind of diseases, which are all of them serious and which lack of an effective healing nowadays”, explains Dr. Martí.

The preclinical study of a mitochondrial disease will be useful to search possible treatment for this pathology and to improve the knowledge of other similar mitochondrial diseases. This will be possible by the signature of a collaboration agreement between, Obra Social “la Caixa”, the CIBERER and Fundación Mencía.

This CIBERER study, which will take place during the following three years, is funded by Obra Social “la Caixa” with 194.400 euros. This funds add up to the 64.800 euros provided by Fundación Mencía, founded by the parents of a seven years old girl, affected by a mitochondrial rare disease, who gives the name to the foundation.

A disease is considered rare when it affects a maximum of 1 person over 2.000 citizens. It is calculated that between a 6% and an 8% of the world’s population suffer a rare disease, 27 millions of people in Europe. Nowadays there are approximately 7.000 different rare diseases, mainly chronic and degenerative, which affect the physical abilities, mental skills and sensorial and behavioral characteristics, with different clinical signs. Over 65% of these diseases are serious and disabling for the patients.

The disease in study is caused by a mutation in the Gfm1 gene which produces a mitochondrial failure which leads to an energy shortage in the cells and it is apparent in the early childhood. I affects mainly the liver and the brain and it quickly progresses resulting in death in the first months of life, although there are cases of survival beyond the age of six, as Mencía. This project will help investigators to know further about this concrete disease and also about other mitochondrial rare diseases which affect hundreds of children in Spain and thousands in Europe.

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