SUMMARY
Gavin R. Oliver, M.S., researches the novel application of omics techniques to the study of genetic and genomic disease. Mr. Oliver operates as bioinformatics lead within the Mayo Clinic Center for Individualized Medicine, where his major focus is on improving the diagnosis of rare undiagnosed disease. His previous work within academia and industry has focused on genomic and transcriptomic studies of cancer.
Focus areas
- Diagnostic odyssey. Mr. Oliver dedicates much of his efforts toward development and implementation of new methods to facilitate the diagnosis of rare inherited disease. Existing clinical methodologies have the potential to diagnose only a fraction of cases. Mr. Oliver's work focuses on the development and application of computational approaches that will drive diagnostic rates higher and facilitate improved future clinical testing.
- Transcriptomics of rare disease. Mr. Oliver is developing novel methods for the investigation of transcriptional abrogation in genetic disease. While genetic studies have traditionally focused on profiling DNA, recent developments have revealed RNA as a rich source of potential diagnostic information. Mechanisms under study include fusion transcription, splicing defects and aberrant gene expression.
- Noncoding variation. As the genomics field moves increasingly toward routine genome sequencing, it will be necessary to shift attention beyond the subset of the genome that codes for protein products and instead focus on the less understood variation that affects genome function and gene expression. Mr. Oliver is developing methods to enable the discovery of disease-causing noncoding variants.
Significance to patient care
Mr. Oliver's work has the potential to expedite and improve the diagnosis of rare genetic disease, elucidating mechanisms of pathogenicity and opening new avenues toward improved patient care, treatment and quality of life.