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Disease Modeling

A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated STXBP1

Mutations in the STXBP1 gene are implicated in childhood epilepsies and several neurodevelopmental disorders, however, nearly half of the STXBP1 variants recorded in the ClinVar database are Variants of Unknown Significance (VUS). In a recent publication, members of the InVivo Biosystems team discussed their work creating humanized C. elegans that expressed STXBP1 in order to classify variants as benign or pathogenic.

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What the Undiagnosed Diseases Network is, How it Works, and How InVivo Biosystems is Doing its Part

The Undiagnosed Diseases Network UND is a nationwide network that is working to understand and diagnose rare and undiagnosed human diseases. The UND coordinates between research and clinical experts, using the latest genetic and genomic technologies to create a more personalized medicine model.

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From Unknown to Known: How the Zebrafish Model is Playing a Vital Role in the Undiagnosed Diseases Network

The Undiagnosed Diseases Network brings together experts across the USA, combining clinical care and research to find diagnoses for undiagnosed patients. Zebrafish are extremely valuable disease models in this research, as they reduce the cost and speed up the process of identifying therapeutic targets. In this blog we highlight one rare disease whose mechanism was successfully identified using zebrafish.

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The Application of Hypersensitivity Assays to the Discovery of Therapeutics

The Application of Hypersensitivity Assays to the Discovery of Therapeutics

Using Humanization we can take advantage of the ancient biology between humans and other organisms to create stand-ins – patient avatars – for drug screening studies. In this blog, we will focus on models of inborn errors of metabolism (IEM), as these genetic conditions can lead to hypersensitivity to the metabolite. Since stressor condition hypersensitivity can be used to detect favorable drug effects, IEM model systems are ideal tools for phenotypic screens to find molecules that alleviate the metabolic stress occurring from the deficiency. We discuss the model organisms used in hypersensitivity screens, and why they are advantageous to drug discovery. Ultimately, showcasing this approach’s potential to be widely generalized to many genetic disorders.

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The 3Rs of Animal Research: Are the guidelines working? How can we do better?

A common saying in science is that, “good science and good animal welfare go hand in hand.” In this article we provide an overview of the 3Rs (Replacement, Reduction and Refinement: guiding principles for the humane use of animals in research), look specifically at the UK’s well-documented implementation of them, and discuss how new techniques and technologies can continue to improve animal welfare.

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