In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …

Lysosomal storage diseases (LSDs) are a group of metabolic inborn errors caused by
defective enzymes in the lysosome, resulting in the accumulation of undegraded substrates …

Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease
caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which …

The AAV9 gene therapy vector presented in this study is safe in mice and non-human
primates and highly efficacious without causing overexpression toxicity, a major challenge …

Rare monogenic disorders such as lysosomal diseases have been at the forefront in the
development of novel treatments where therapeutic options are either limited or unavailable …

Many adult and most childhood neurological diseases have a genetic basis. CRISPR/Cas9
biotechnology holds great promise in neurological therapy, pending the clearance of major …

Batten disease is a family of rare, lysosomal disorders caused by mutations in one of at least
13 genes, which encode a diverse set of lysosomal and extralysosomal proteins. Despite …

Krabbe disease (KD) is a lysosomal storage disease (LSD) caused by mutations in the galc
gene. There are over 50 monogenetic LSDs, which largely impede the normal development …

Abstract Focused Ultrasound Blood-Brain Barrier Opening (FUS-BBBO) can deliver adeno-
associated viral vectors (AAVs) to treat genetic disorders of the brain. However, such …

CLN3 disease, caused by biallelic mutations in the CLN3 gene, is a rare pediatric
neurodegenerative disease that has no cure or disease modifying treatment. The …