Douglas R. Martin

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

Intravenous AAV gene therapy extends lifespan and improves clinical outcomes in feline Sandhoff Disease by reducing GM2 ganglioside accumulation and neuroinflammation.

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

The paper identifies cell type-specific regulatory elements in nine mammals and shows their conservation and association with neuropsychiatric and neurodegenerative disease risks.

This study identifies a PEA15 mutation in domestic cats causing lissencephaly and cerebral malformations, revealing a role for PEA15 in gyrencephalic brain development.