Tammy Gillis

Somatic CRISPR editing of Msh3 mitigates Huntington's disease pathology in mice

This study shows that knocking out Msh3 in mice with Huntington's disease slows CAG expansion and reduces pathology, with earlier intervention being more effective.

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis

TRACE is an open-source software that quantifies somatic instability of tandem repeats using capillary electrophoresis data, providing accessible tools for analyzing repeat expansion.

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

This paper investigates the protective effect of the LIG1 K845N variant in Huntington's disease by showing it increases ligase fidelity and suppresses somatic CAG repeat expansion.

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing

The paper identifies genetic modifiers of Huntington's disease somatic CAG repeat instability using CRISPR-Cas9 in HD knock-in mice, revealing new therapeutic targets.

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.

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease

This study shows splice modulators like branaplam reduce HTT CAG repeat expansion by affecting PMS1 expression, suggesting PMS1 as a new therapeutic target for Huntington's disease.

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

The paper analyzes somatic instability of the CCCTCT repeat in XDP and finds repeat length-dependent expansion in brain regions, with regional patterns and similarities to HTT CAG repeat instability.

Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.