Hannah L. Watry

Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles

This paper identifies therapeutic opportunities for over 500 genes with dominant and dispensable disease alleles by enabling mutation-agnostic gene therapy through allele-specific targeting.

Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL

This paper demonstrates haplotype editing with CRISPR/Cas9 to target NEFL missense mutations in iPSC-derived motor neurons, showing therapeutic potential and challenges in disrupting mutant allele expression.

Neuronal DNA repair reveals strategies to influence CRISPR editing outcomes

The paper investigates DNA repair in postmitotic neurons and shows that manipulating repair pathways can influence CRISPR editing outcomes.

Functional analysis of a common BAG3 allele associated with protection from heart failure

This study investigates the functional impact of a BAG3 allele associated with reduced heart failure risk, showing it enhances cardiomyocyte stress resistance through altered protein interactions.

Allele-specific gene editing rescues pathology in a human model of Charcot-Marie-Tooth disease type 2E

This paper demonstrates allele-specific CRISPR gene editing in a human CMT2E model rescues disease pathology by inactivating the mutant NEFL allele.

Rapid, precise quantification of large DNA excisions and inversions by ddPCR

The paper introduces ddXR, a method to rapidly and accurately quantify DNA excisions and inversions without sequencing, revealing high rates of large excisions and low dependence on linear distance.

Unbiased detection of CRISPR off-targets in vivo using DISCOVER-Seq

This paper introduces DISCOVER-Seq, a method to detect CRISPR off-targets in vivo with single-base resolution, applicable to multiple Cas nucleases.