Visit the NemaMetrix booth (#200) at the 2017 ASCB|EMBO meeting to learn how our latest technologies provide fast genotype-to-phenotype answers and enable you to better study the connection between genes and behavior.
Tech Talk: Functional analysis of disease genes in in vivo systems at 3:00 pm, Monday, Dec. 4 in Theater 2, Learning Center
Presenters: Chris Hopkins, Ph.D., CSO and Kathryn McCormick, Ph.D., Director of R&D
The age of genomic and precision medicine is revolutionizing medical practices, but it is also revealing gaps in our knowledge of the genetics of disease. One challenge is the functional analysis of genetic variants. This remains difficult because of the translational difficulty of moving all the way from genetic manipulation through cellular functionality to organismal behavior. Using new advances in the field of phenotyping and genetic manipulation, we present a platform that allows researchers to make this connection.
What You’ll Learn:
We have the ability to humanize the genome of model organisms (C. elegans and zebrafish) both through native locus mutagenesis and through installation of the canonical human sequence. Using CRIPR site directed mutagenesis, we can create disease-relevant changes to the genome at hotspots of variant mutation and introduce many point mutations in a single injection. Using a high-content analysis microfluidic flow platform, we can perform organismallevel phenotyping of genetic mutants to obtain high-dimensional functional data. We will show a typical workflow for disease variant analysis, focusing on Epilepsy and Alzheimer’s Disease genetics.