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Zebrafish and C. elegans in ALS: tightening the bench-to-clinic gap

While advances in molecular imaging, high-throughput screening, genomics and techniques like CRISPR-Cas9 gene editing have dramatically enhanced our understanding of the human body and disease, the pace of advancing new treatments for those diseases has lagged behind significantly. One way to shorten the time between laboratory discoveries and available new drugs is to use animal …

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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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Systems for Improving Diagnostic Yield of Genomic Sequence Analysis

How to better understanding Variants of Uncertain Significance in epilepsy and help find new therapeutic approaches Did you know that 1 in 26 people will experience epilepsy at some point in their lifetime? This statistic is very high, and therefore it is likely many of you have experienced epilepsy or know someone who has. My …

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Child Neurology Meeting: Bernard Sachs Award to William B. Dobyns and Precision Medicine in Epilepsy Lecture

The Child Neurology Society honored William (Bill) Dobyns for his highly impactful efforts in characterizing child neurology. In a prolific and highly influential carrier, Bill talked about how the key influencers in his life shaped the directions he pursued.  Reinforcing the title of his talk “The Names of Things, ” Bill was the first 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. …

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