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Chris Hopkins

The Challenge of Getting CRISPR-based Knock-ins to Work in Zebrafish

Just the other day, I was talking with a collaborator who told me that they didn’t really believe that knock-ins really worked in zebrafish. Although there have been literature reports for years, the number of labs that struggle and fail with this technique far outweigh the number that find success and publish. So I can …

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The Precisome™ Platform Bridges the ACDY5 Diagnostic Gap

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.

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

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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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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