Related Experiment Video
Updated: May 28, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Translational biology approach to identify causative factors for rare toxicities in humans and animals
E Dale Johnson1, Sucha Sudarsanam, Jonathan Bingham
1Emiliem, Inc., Emeryville,CA 94608, USA. dale@emiliem.com
Abstract:
Genome-wide RNA splicing (with gene expression) can be used to discover variations that drive specific diseases and / or change the susceptibility in individuals to drug responses including tissue specific toxicities. Evidence linking causative SNPs to individual splicing differences between individuals is emerging and this may lead to a better understanding of susceptibilities related to rare drug-induced toxicities. The development of more sensitive genomics tools is expected to further the study of variations in molecular phenotype from alternative splicing of pre-mRNA. This report highlights a genomics platform developed to measure splicing changes that occur in response to drug exposures, and therefore is applicable for the study of drug-induced toxicity. The platform is applicable for humans, all toxicology species, and specialized model systems. For efficiency, multiple samples can be combined into a single sequencing run and individual sequences can be separated via informatics. Biobanked specimens from clinical trials, toxicology studies, from commercial sources, and/or from public 'omics' data resources such as in NCBI are the only sample or non-sample data requirements.
More Related Videos
Related Concept Videos
Toxicity Testing in Animals
Toxicokinetics: Overview
Pharmacogenomics: Identification of New Drug Targets
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

