Jun Wan Shin

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

The paper identifies genetic modifiers of somatic CAG expansion and clinical phenotypes in Huntington's disease, revealing shared and tissue-specific effects on disease timing and pathogenic processes.

Personalized allele-specific CRISPR-Cas9 strategies for myofibrillar myopathy 6

This study develops personalized CRISPR-Cas9 strategies to specifically inactivate the mutant BAG3 allele in MFM6 patients, demonstrating their feasibility for regenerative medicine.

Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease

The paper develops base editing strategies to convert CAG to CAA in Huntington's disease, reducing CAG repeat expansion and showing therapeutic potential.