Our Pipeline for Discovery & Translation

The Center for Genomic Medicine leverages the successful discovery and translation pipeline established by the Utah Genome Project to discover the genetic causes of disease and translate these discoveries into accurate diagnoses, targeted treatments, prevention strategies, and cures.

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Cohort Identification and Recruitment: People with a suspected genetic disease are identified through the Utah Population Database, through their electronic medical records, or by their doctor. They are invited to participate in a research study.


Sequencing: Following informed consent, blood or saliva is collected from the participant. DNA is extracted and sequenced.

 

Genomic Analysis: Sequencing data are analyzed using the advanced computational technologies developed by the Utah Center for Genetic Discovery to find disease-causing genes and variants.

 

Functional Validation: Researchers work to validate the new disease-gene association. They may analyze additional families suspected to carry the disease-causing variant and or conduct laboratory experiments to understand how the gene functions.

Drug and Diagnostics Development: Once validated, our investigators work with colleagues in the College of Pharmacy and ARUP Laboratories to develop targeted therapeutics and precision diagnostics, respectively.

 

Clinical Application & Return of Results: Genomic medicine findings are integrated into routine patient care. Medically actionable results are returned to research participants.

Research Projects and Latest News

Our investigators are leading projects at every stage of the discovery and translation pipeline. Read more about our projects and latest news.

Resources

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Resources are available to support investigators at every stage of the pipeline.