Testing gene editing therapies for splcing mutations in neurometabolic diseases

Línea de investigación

Physiopathology studies and therapeutic approaches in animal and cellular models of neurometabolic diseases.

Descripción

CRISPR/Cas, base editing and/or prime editing will be tested in cellular models of disease, carrying specific intronic or exonic variants causing different splice defects. The effect will be monitored by analysing the correction of the splice defect (RT-PCR), recovery of the protein (Western blot) and enzymatic activity.

Contacto

Lourdes Ruiz Desviat.

Correo electrónico: lruiz@cbm.csic.es.