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CRISPR

CRISPR technologies enable humanized animal models to aid disease research

C. elegans as a model to evaluate the function of disease genes In 1998, the soil nematode Caenorhabditis elegans became the first multicellular organism of which the genome has been sequenced completely [1]. One surprising result of this approach was that ~65% of the human disease genes have a counterpart in the worm [2]. In …

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What Can Zebrafish Tell us About CRISPR Off-Target Activity?

In 2017, a now-redacted paper published in Nature Methods claimed that CRISPR created hundreds of unintended mutations in mouse models, and that algorithms designed to detect those “off target effects” weren’t working. The news sent share prices of CRISPR-based companies plummeting, and created rumblings—even panic—among scientists and gene editing-watchers worldwide. How accurate was CRISPR-Cas9, after all?

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C. elegans as Fast and Affordable System for Variant Phenotyping

Systems for Functional Studies A variety of modeling systems can be used to explore variant function. Initially, many researchers turn to a computational approach to aid variant assessments (Eilbeck 2017). A recent bioinformatics study was used to refine the variant classification of voltage-gated sodium channels (KCNQs) for their contributions to epilepsy (Hol 2017). Yet many …

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Worming into Relevance – Human disease models in the C. elegans nematode

The philosopher Friedrich Nietzsche once said: “You have evolved from worm to man, but much within you is still worm.” Genetic diversity in individuals and between species is responsible for bewildering variability and biological niche adaptation of life, yet much of the essential genes involved in disease presentation are highly conserved from yeast to humans. …

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KCNQ2 epilepsy gene

Functional analysis of variants to aid understanding of children’s epilepsy

Performing sequence analysis on a patient with a suspected genetic disease is becoming a standard of care. However, when a genetic variation is identified as pathogenic in a disease state, clinicians and patients are faced with making difficult care decisions. NemaMetrix has developed a platform that allows us to undertake functional analysis of variants to …

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Worming into Relevance – Human disease models in the C. elegans nematode

The philosopher Friedrich Nietzsche once said: “You have evolved from worm to man, but much within you is still worm.” Genetic diversity in individuals and between species is responsible for bewildering variability and biological niche adaptation of life, yet much of the essential genes involved in disease presentation are highly conserved from yeast to humans. …

Worming into Relevance – Human disease models in the C. elegans nematode Read More »

CRISPR/Cas9 off target effects: Hyperactive cutting or media hype?

There has been a lot of media coverage in recent months surrounding CRISPR/Cas9 and the potentially life changing impact the gene-editing technology could have. More recently though, this coverage has focused on the potential for serious consequences in the form of off-target effects. The fear with off-target effects is that CRISPR/Cas9 editing is not as …

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