We make progress in the understanding of rare neurological diseases

One of the main problems faced by people who suffer from rare diseases is the lack of treatment and difficulty in diagnosis. There is still very little research and progress is slow. We collaborate with these scientific research projects to deal with these problems and improve the quality of life of these children.

Research programme on a new model for the study of rare mitochondrial diseases of genetic origin. Dr Ramon Martí – CIBERER-VHIR

With the collaboration of Obra Social ”la Caixa” and the Mencía Foundation, the research project on mitochondrial diseases of genetic origin, such as hepatic encephalopathy due to mutations in the GFM1 gen, seeks to develop and characterize a genetically modified mouse model that contains the same GFM1 gene mutation as these patients.

Animal models that mimic genetic diseases are a necessary step in deciphering the unknown aspects of these diseases.

The generation of this mouse will provide the first animal model on a world scale that manifests a similar clinical and molecular phenotype to patients and which is available to the entire scientific community in order to study the disease and possible treatments, including gene therapy.