We are making progress in understanding minority neurological disorders

One of the main problems of people who suffer minority disorders is the lack of treatment and difficulty of diagnosis.

We cooperate with these scientific research projects to deal with these problems and improve quality of life for patients suffering them.

Research programme on a new model for studying minority mitochondrial disorders of genetic origin. CIBERER-VHIR

With the cooperation of the ”la Caixa” Foundation and the Mencía Foundation, the research project into minority mitochondrial disorders of genetic origin, like hepatic encephalopathy due to mutations in the GFM1 gene, aims to develop and describe a model of genetically modified mouse that contains the same mutation of the GFM1 gene as that displayed by these patients.

Animal models that imitate genetic disorders are a necessary step towards decoding the unknown aspects of these pathologies.

Thus, the development of this mouse will give us the first animal model in the world to display a clinical and molecular phenotype similar to these patients and available to the scientific community to study the disorder and possible therapies, including genetic therapy.