Genetic epileptic channelopathies as disease models for drug discovery toward personalized treatment: an integrated bench-to-bedside and backward approach (DSB.AD004.246)
Area tematica
Area progettuale
Neuroscienze (DSB.AD004)Struttura responsabile del progetto di ricerca
Istituto per la Ricerca e l'Innovazione Biomedica (IRIB)
Altre strutture che collaborano al progetto di ricerca
Responsabile di progetto
GRAZIA ANNESI
Telefono: 09613695935
E-mail: grazia.annesi@cnr.it
Abstract
Ion channels are critical regulators of several, often interdependent, functions such as tissue growth and development, cell migration, differentiation and motility, and overall excitability. In the last two decades, an ever-growing number of sequencing techniques of increasing sensitivity and capacity are providing detailed catalogs of genomic variants in ion channel genes in patients affected with various neurological diseases including epilepsy, migraine,ataxia, and pain. These studies have revealed that a large fraction of genetically-determined neurological diseases are in fact channelopathies, broadly defined as diseases caused by mutations in ion channel genes. In these diseases, currently-available therapeutic options are mostly symptomatic, often restricted by safety and efficacy pitfalls. For epilepsy, genomic approaches have also led to rational treatment strategies to reverse or circumvent the disease-causing molecular defect, opening the field of personalized/precision treatment. Currently established or investigated precision medicine treatments in rare Mendelian genetic epilepsies already include the ketogenic diet in patients with GLUT1 deficiency, sodium channel b
Data inizio attività
25/09/2019
Parole chiave
developmental neurobiology, electrophsyology, neuropharmacology precision medicine
Ultimo aggiornamento: 20/05/2024