Kathy J. Snow

Novel mouse reporter models for the detection of genome editing events in vivo

Kathy J. Snow, Ethan Saville, Caleb Heffner, Yaned Gaitan et autres

Abstract With the expansion of therapeutic gene editing technology, small animal models provide essential platforms to evaluate the function of these new approaches in vivo . As part of the Somatic Cell Genome Editing (SCGE) Consortium, we developed next-generation murine reporters that …

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Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice

Eric L. Bogenschutz, Cynthia Carpenter, Ameleen Wong, Kristina Palmer et autres

Abstract Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly characterized by impairment of both diaphragm and lung development in utero . CDH presents as a spectrum of forms and severities, with diaphragm defects arising in the dorsal/posterior region typically correlating with …

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Efficient in vivo mammalian neuron editing using peptide-mediated CRISPR enzyme delivery

Meika Travis, Vikas Munjal, Christopher M. Baehr, Lily M. A. Rahnama et autres

Abstract CRISPR-mediated genome editing of the central nervous system (CNS) has the potential to revolutionize the treatment of neurological disorders, including neurodegenerative disorders such as Huntington’s disease (HD). However, the development of CRISPR therapeutics for the CNS has been hindered by challenges …

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A comprehensive atlas of AAV tropism in the mouse

Christopher J. Walkey, Kathy J. Snow, Jote Bulcha, Aaron R. Cox et autres

Gene therapy with adeno-associated virus (AAV) vectors requires knowledge of their tropism within the body. Here we analyze the tropism of 10 naturally occurring AAV serotypes (AAV3B, AAV4, AAV5, AAV6, AAV7, AAV8, AAV9, AAVrh8, AAVrh10, and AAVrh74) following systemic delivery into male …

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O16: Preclinical development of a gene therapy for Ogden syndrome, using new mouse models of the disease

Gholson J. Lyon, Kathy J. Snow, Yaned Gaitan, Ethan Saville et autres

increase from baseline: 851% and 271%, respectively; both p<0.0001; n=12), and were sustained 48 weeks post-gene therapy (mean [SD] change from baseline in CSF HVA levels, 28.3 [13.7] nmol/L; mean percentage increase from baseline, 1073%; p=0.0003; n=9) (mean [SD] change from baseline …

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A Comprehensive Atlas of AAV Tropism in the Mouse

Christopher J. Walkey, Kathy J. Snow, Jote Bulcha, Aaron R. Cox et autres

Gene therapy with Adeno-Associated Viral (AAV) vectors requires knowledge of their tropism within the body. Here we analyze the tropism of ten naturally occurring AAV serotypes (AAV3B, AAV4, AAV5, AAV6, AAV7, AAV8, AAV9, AAVrh8, AAVrh10 and AAVrh74) following systemic delivery into male …

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Amphiphilic shuttle peptide delivers base editor ribonucleoprotein to correct the CFTR R553X mutation in well-differentiated airway epithelial cells

Katarina Kulhánková, Anna X Cheng, Soumba Traore, Maud Auger et autres

Base editing could correct nonsense mutations that cause cystic fibrosis (CF), but clinical development is limited by the lack of delivery methods that efficiently breach the barriers presented by airway epithelia. Here, we present a novel amphiphilic shuttle peptide based on the …

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Focused ultrasound–mediated brain genome editing

Yeh‐Hsing Lao, Robin Ji, Joyce K. Zhou, Kathy J. Snow et autres

Gene editing in the brain has been challenging because of the restricted transport imposed by the blood-brain barrier (BBB). Current approaches mainly rely on local injection to bypass the BBB. However, such administration is highly invasive and not amenable to treating certain …

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Data from Complex Oncogenic Translocations with Gene Amplification Are Initiated by Specific DNA Breaks in Lymphocytes

Sarah Wright, Yong Woo, Travis L. Alley, Bobbi‐Jo Shirley et autres

Abstract Chromosomal instability is a hallmark of many tumor types. Complex chromosomal rearrangements with associated gene amplification, known as complicons, characterize many hematologic and solid cancers. Whereas chromosomal aberrations, including complicons, are useful diagnostic and prognostic cancer markers, their molecular origins are …

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Supplementary Table 1 from Complex Oncogenic Translocations with Gene Amplification Are Initiated by Specific DNA Breaks in Lymphocytes

Sarah M. Wright, Yong Woo, Travis L. Alley, Bobbi‐Jo Shirley et autres

Supplementary Table 1 from Complex Oncogenic Translocations with Gene Amplification Are Initiated by Specific DNA Breaks in Lymphocytes

Supplementary Table 1 from Complex Oncogenic Translocations with Gene Amplification Are Initiated by Specific DNA Breaks in Lymphocytes

Sarah M. Wright, Yong Woo, Travis L. Alley, Bobbi‐Jo Shirley et autres

Supplementary Table 1 from Complex Oncogenic Translocations with Gene Amplification Are Initiated by Specific DNA Breaks in Lymphocytes

Data from Complex Oncogenic Translocations with Gene Amplification Are Initiated by Specific DNA Breaks in Lymphocytes

Sarah M. Wright, Yong Woo, Travis L. Alley, Bobbi‐Jo Shirley et autres

Abstract Chromosomal instability is a hallmark of many tumor types. Complex chromosomal rearrangements with associated gene amplification, known as complicons, characterize many hematologic and solid cancers. Whereas chromosomal aberrations, including complicons, are useful diagnostic and prognostic cancer markers, their molecular origins are …