AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants
Mol Ther. 2026 Sep 2:S1525-0016(26)00772-0. doi: 10.1016/j.ymthe.2026.09.003. Online ahead of print. ABSTRACT Cbln1 is a secreted synaptic organizer required for parallel fiber-Purkinje cell (PF-PC) synapse integrity, climbing fiber (CF) refinement, and cerebellar motor learning, but has not previously been implicated in human disease. We identified biallelic CBLN1 missense variants (A63P and Y112C) in two unrelated […]
Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies
Orphanet J Rare Dis. 2026 May 21. doi: 10.1186/s13023-026-04388-1. Online ahead of print. ABSTRACT Individualized medicine has the potential to be a transformative approach to healthcare that tailors medical treatments to the unique makeup of each patient. This report explores the potential of individualized genetic medicines to meet the pressing need for effective treatments for […]