Skip to navigation Skip to main content Skip to footer

Approved Research

Transcriptome-Wide, Phenome-Wide Association Study (TWAS PheWAS) for Drug Target Prioritization

Principal Investigator: Dr David Goldstein
Approved Research ID: 89150
Approval date: September 20th 2022

Lay summary

Actio Biosciences is a biotechnology company engaged in the development of rare disease therapeutics with broader use for common diseases. Our approach is motivated by the idea that use of novel therapeutics in common diseases can support the sustainability of rare disease drug development, and the fact that therapeutic targets with genetic evidence tend to be more successful during the drug development process. Our overall goal with the UK Biobank data is to identify causal links between rare disease genes and the common conditions and traits provided by UK Biobank participants, which would support our strategy by identifying genes with strong rare disease and common disease links. We will accomplish this goal by; 1) predicting tissue-specific gene expression levels from DNA sequence data, 2) associating predicted gene expression levels with diseases and traits, and 3) identifying links between rare protein coding genetic variants with diseases and traits that support the findings from the predicted gene expression associations. Success would benefit the public by both providing therapeutics for rare diseases with no available treatments, and by providing novel therapeutics with broader common disease uses.