Paula J. Waters

This study identifies the minimal effective NTBC dose to prevent liver damage in HT1 using an in vitro model and validates it in 99 patients, while highlighting residual gene dysregulation linked to cancer risk.

The paper uses CRISPR-Cas9 in mice to identify modifier genes that affect the severity of tyrosinemia type 1 by editing enzymes in the tyrosine catabolic pathway.

This paper engineers CRISPR-Cas9 variants from Streptococcus thermophilus to target diverse A-rich PAMs, enabling efficient genome editing in mice.