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Approved Research

Genetic and phenotypic characterization of potential therapeutic targets

Principal Investigator: Dr Aaron Arvey
Approved Research ID: 64712
Approval date: October 8th 2020

Lay summary

Scientific Rationale: Human diseases are hard to understand and even harder to treat.  One of the major challenges is that each human has a unique genome and unique environment.  One approach to control for genome and environment is to use non-human model organisms, such as inbred mice; however, diseases in humans and mice are quite different and treatments that work well in mice often do not work well in humans.  An alternative approach is to study human disease and understand how the genome and environment directly influence disease.  However, this requires surveying a sufficient number of humans to obtain robust statistical coverage of genetic alleles and environments.

The UK Biobank has made it possible to understand both genetic and environmental influences in human disease by collecting genetic and phenotypic information on hundreds of thousands of individuals. These data can then be integrated with orthogonal human and model organism data to obtain a more complete picture of disease and provide paths towards development of therapeutics that successfully treat disease in humans.

Aims: Our scientific team will use the UK Biobank to understand the genetic and environmental underpinnings of disease.  In addition to disease associations, we will also analyze quantitative biological measurements in individuals without disease.  To identify genetic associations, we will control for environment by clustering co-occuring diseases and compare genomes of individuals with similar-yet-distinct disease profiles.  Once we integrate our findings with orthogonal data, our team has a proven track record of using human genetic data to create novel therapeutics that improve patient lives.

Project duration will be 3 years. 

Therapeutically relevant discoveries will be made available to the general public.