Epilepsy affects approximately 3% of the population and in 50% of cases, it has a genetic origin, such as Dravet syndrome, which is associated with a mutation in the SCN1A gene in 75% of cases. It is characterized by abnormal electrical activity in the brain that causes sudden attacks including violent seizures and unconsciousness.
Most of the current treatments are aimed at preventing the onset of seizures. Surgery can be applied in the treatment of drug-resistant epilepsy. However, in some cases neither pharmacological nor surgical treatment achieve a significant reduction in seizures that improves the quality of life of the patient.
Our objective is to investigate the genetic alterations and risk factors associated with drug-resistant epilepsy. For this, complete genome-wide association studies of patients and next-generation sequencing techniques are carried out in order to determine the genetic variants responsible for drug resistance. The information obtained is used to develop new animal models of the disease, as well as to identify new therapeutic targets. In parallel, animal models of epilepsy are used to identify biomarkers associated with the disease itself and to evaluate the therapeutic capacity of developing treatments.
Specifically, our main projects are:
1. Design and validation of gene panels for the diagnosis and clinical classification of epilepsy using new generation sequencing (NGS or next generation sequencing).
2. Study epigenetic changes and signaling pathways associated with the prognosis of the disease, as well as its effect on gene expression.
3. Development of new models and treatments based on the results of genetic studies.
4. Development and validation of gene therapy-based treatments for Dravet syndrome.
5. Development of neurophysiological tests that provide diagnostic markers in children with epilepsy of genetic origin such as Dravet syndrome.
Fecha de actualización: Junio 2019