Connecting Genes to Behavior
Chris Hopkins, Ph.D. & Kathryn McCormick, Ph.D.
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Chapters
Introduction
Genes to Behavior - Systems for Rapid Phenotyping of Gene Variants
Gene to Behavior Problem: Size of Disease Gene Landscape
Human Disease Gene Orthologs
Human Disease Variant Biology
The Prevalence of VUS Alleles
Commonly Used Animal Models - Kathryn McCormick
Animal Research Complements Clinical Practices
C. elegans is relevant to human diseases
Disease Modeling Advantage
Approaches to Genotypes
Genetic Engineering Choice
Shotgun Approach to Variant Production
Easy to use format
Approaches to Phenotypes
NemaMetrix ScreenChip System C
ScreenChip System: Growth Module
ScreenChip System: Integrated Playback
Stains, Dyes and Fluorescent tagging
Stains, Dyes and Fluorescent tagging
Case Examples of Genes to Behavior
Applications: Loss-of-Function Alleles - Chris Hopkins
Applications: Human Transgene Expression
Applications: Known Pathogenic Alleles
Clinical Applications: Variants in Native Locus
Clinical Applications: Patient VUS in Native Locus
Clinical Applications: Native-locus Autism Variants
Clinical App: Native Locus Install of STXBP1 Variants
Clinical App: Pathogenicity Assignment for STXBP1
Clinical App: Rescue with Humanized STXBP1
Clinical App: Searching for Therapeutics
Genes to Behavior Systems
Thank You
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