Hailey Findlay Black

This study shows that HTT CAA/CCA-loss variants increase toxicity in Huntington disease models independently of somatic repeat instability.

The paper shows that loss of interruption in HTT CAG repeats increases somatic expansion and MSN loss in HD, with greater effects in patients with CAG-CCG LOI.

This study investigates challenges in mHTT quantification in CSF, showing that absolute quantitation is unreliable due to protein complexity and recommends relative quantitation instead.