Chris Hopkins InVivo Biosystems

The Precisome™ Platform Bridges the ACDY5 Diagnostic Gap

Disease Modeling / By Anna Malinkevich, MS and Chris Hopkins / October 24, 2019 November 10, 2020

NemaMetrix is the market leader for early preclinical in-vivo testing using small animal models to gain a better understanding of the efficacy, mode of action, toxicity and potential targets for novel compounds. In this case study we outline how we used the animal model C. elegans to perform a set of specific experiments designed by our experts to provide rapid and reliable data based on our customer’s priorities. Using the data that we provided, our customer was able to apply for multiple patents in a timely manner.

Total Domination – Uncovering the Phenomenon of 1:2 Dominant vs Recessive ratio for Variation in the Genome

Our CSO revisits his Veritas Genomic Sequencing report for a closer look at how significant some of the discovered variants are

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

Disease Modeling, Gene Editing / By Chris Hopkins / July 25, 2019 November 10, 2020

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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The Unnecessary Procedure – A Problem with False Positives in Genomic Testing

Disease Modeling, View from the Bench / By Chris Hopkins / March 4, 2019 November 10, 2020

There is a significant pressure to increase diagnostic yield and it has its consequences. BRCA testing is probably the most developed ecosystem for genetic tests but controversy remains about what medical procedures are best recommended for the patient. High profile cases such as Angelina Jolie’s decision to undergo a bilateral mastectomy and the implication of …

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

Disease Modeling, News & Announcements / By Chris Hopkins / January 25, 2019 November 10, 2020

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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Explosive Growth of Gene Variant Numbers

Disease Modeling / By Chris Hopkins / January 25, 2019 November 10, 2020

Genetic Testing Clinical geneticists have an acute need to understand pathogenicity in genomes of their patients (Figure 1). Cost per human genome has now approached $1000 each (Wetterstrand 2018). This affordable cost is allowing clinicians to start incorporating next-generation sequencing (NGS) technology into the patient diagnosis. Variant Diversity The American College of Medical Genetics and …

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Systems for Improving Diagnostic Yield of Genomic Sequence Analysis

Disease Modeling / By Chris Hopkins / January 24, 2019 November 10, 2020

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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Dealing with Uncertain Significance of the Genome

Disease Modeling, Gene Editing, View from the Bench / By Chris Hopkins / December 13, 2018 November 10, 2020

“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

CRISPR, Disease Modeling, Gene Editing / By Chris Hopkins / November 28, 2018 November 10, 2020

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

CRISPR, Disease Modeling, Gene Editing / By Chris Hopkins / November 20, 2018 November 10, 2020

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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