Web Content Display

investigacion-y-salud/investigacion-ciencias-vida-salud/neurociencias/minoritarias-neurologicas_CARROUSEL

Web Content Display

investigacion-y-salud/investigacion-ciencias-vida-salud/neurociencias/minoritarias-neurologicas_DESTACADO-TITULO-2-COLUMNAS

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.

Molecular bases of metabolic illnesses and the development of specific mutation therapies – Isabel Gemio Foundation (FIG)

Minority illnesses, which affect more than 3,000,000 people in Spain, do not have an adequate medical response and present serious diagnosis problems. With the support of the ”la Caixa” Foundation and the Isabel Gemio Foundation (FIG), Dr Belén Pérez, CIBERER researcher (Centre for Network Biomedical Research on Rare Diseases) will conduct this project to better diagnose generic metabolic illnesses and to be able to explore different therapeutic possibilities in the future.

It is sought to make progress in the development of drugs aimed at correcting specific genetic defects, and to contribute to increasing the interest of pharmaceutical companies in developing “orphan” drugs.

Study of the regenerative capacity of the muscular progenitors of iPS cells of patients with type 2A waist dystrophy– Isabel Gemio Foundation (FIG)

Type 2A waist dystrophy (LGMD2A) is a genetic recessive inheritance illness caused by mutations in the gene that codify the calpain-3, which causes progressive muscular weakness commencing between the ages of 8 and 15, and which reduces the patient's mobility.

Although the genetic cause of the illness is described, the cellular mechanisms that provoke muscular degeneration are unknown, thereby hindering the performance of effective treatments.

This project led by Dr López de Munáin of the Donostia Health Research Institute endeavours to establish a cellular model from patient samples that enables the role of calpain-3 to be studied in muscular development and regeneration, and to test the therapeutic potential of different drugs to treat this illness.