The unique environment of the IIHG at the University of Iowa draws on existing strengths in human genetics research as well as advanced technological capabilities to provide unprecedented opportunities to make progress in both the discovery and translational phases of human genetics.
By providing researchers with a state-of-the-art, high-throughput genetic analysis facility, we seek to support research focused on human genetics and personalized medicine. Our expertise and resources allow us to coordinate large-scale gene discovery, targeted gene-based and disease-based clinical diagnostics to improve disease-specific treatment.
New test development
Working in partnership with industry, IIHG is developing new genetic panels of tests to foster the clinical translation of ‘mature’ basic science data into diagnostic tests for inherited diseases.
Please contact Richard Smith, MD to suggest a disease or gene for future test development.
Exome analysis for rare disease
The IIHG is using state-of-the-art clinical genetics diagnostic platforms that use targeted-sequence capture and massively parallel sequencing to interrogate all genes implicated in a variety of rare inherited diseases. This initiative is being undertaken in collaboration with outstanding UIHC clinicians to facilitate genome-phenome integration as a requisite step towards personalized genomic medicine. Patients seen from throughout the USA as part of this initiative are also offered expertise in genetic counseling as a step towards translating genetic findings into improved health care.