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Gene Editing

Genomic baggage – What are the skeletons rattling in your genetic closet?

When you receive your genomic report, you have a movement of trepidation.What will it say? Will it have something that says you should do countermeasures immediately? Will it say something that you can do nothing about? The latter condition occurred for me. There were findings that had a strong impact on my psyche. Two things …

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Conditional mutagenesis by loxP insertion in zebrafish – outfoxing the unfloxable

CRISPR/Cas9-mediated integration of loxP sequences for conditional mutagenesis in zebrafish has recently made its way into the toolkit of zebrafish researchers. In particular, CRISPR/Cas9 mutagenesis coupled with ssODN-mediated repair has simplified experimental design and provided a robust framework for conditional mutagenesis, as readily demonstrated by several groups in the zebrafish community to date….

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The Humanized Worm [Infographic]

Humanized model organisms are powerful biological models that allow scientists to study human disease genes in simpler contexts without losing the value of in vivo studies. In either C. elegans or Zebrafish, a native model organism gene can be replaced by a human gene with the same biological function. After this, mutations can be introduced into the …

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New Milestone! We can now remove over 43,000 bp from C. elegans genomic DNA!

12k, 24k, 36k…we can now precisely remove over 43k bp from C. elegans genomic DNA! Knocking out genes is a commonly used tool for biologists to understand gene function in live animals. The examination of phenotypes when a gene is deleted can reveal valuable insights into what role that gene plays in the organism and …

New Milestone! We can now remove over 43,000 bp from C. elegans genomic DNA! Read More »

Dealing with Uncertain Significance of the Genome

“Risky Business” Most of us are wired to be risk averse. Yet, I have been giving serious contemplation to the “risky business” of having my whole genome be sequenced as a preventative medicine approach to my healthcare. What will happen if go there? I find myself staring into the murky abyss from the edge of the …

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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 …

Functional analysis of variants to aid understanding of children’s epilepsy Read More »

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 »

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