Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...
BioWorld

New mouse model of hereditary deafness resulting from common GJB2 mutation

The most common genetic cause of hereditary deafness in humans are mutations in the GJB2 gene, especially the 35delG and 235delC mutations. At the recent ARO meeting, researchers from Ear Nose and ...
BioWorld

Spur Therapeutics selects gene therapy development candidate for Parkinson’s disease with GBA1 mutations

Spur Therapeutics Ltd. has selected SPR-301 as lead development candidate from its gene therapy program for a genetically defined subset of Parkinson’s disease characterized by mutations in the GBA1 ...