Devin Oglesbee, Ph.D.
Devin Oglesbee, Ph.D.
Devin Oglesbee, Ph.D. is a co-Director of Mayo Clinic's Biochemical Genetics Laboratory and a Fellow of the American College of Medical Genetics. Dr. Oglesbee has medical board certifications in Clinical Biochemical Genetics and Clinical Molecular Genetics specialties.
Dr. Oglesbee's research activities center on translational applications in both biochemical and molecular diagnostics for the laboratory diagnosis of inborn errors of metabolism, such as mitochondrial diseases. This includes developing new clinical assays for the comprehensive mutational analysis of rare genetic disorders by high-throughput sequencing via robotics and predictive analysis tools, developing new methodologies for improving and expanding newborn screening for genetic conditions, and organizing infrastructure, such as the Mitochondrial Disease Biobank, in order to expedite the progression of genetic research from bench-to-bedside.
The current translational research projects in molecular diagnostics include the clinical conversion of next-generation DNA sequencing technologies for detecting mitochondrial diseases, the expansion of molecular assays to confirm newborn screening results in dried-blood spots, and the construction of oligonucleotide arrays for deletion/duplication testing for inborn errors of metabolism.
Dr. Oglesbee also researches the clinical validity and utility of protein-based assays for improving biochemical testing and expanding newborn screening. In collaboration with Mayo Clinic researchers, Dr. Grazia Isaya and Dr. Dietrich Matern, an exciting project is to determine whether a relative common ataxia, Friedreich's ataxia, can be diagnosed in asymptomatic newborns through dried-blood spots in a cost-effective and high-throughput manner. Friedreich's ataxia is a debilitating progressive condition that affects mitochondrial function and leads to the degeneration of sensory neurons and heart dysfunction from the loss of frataxin protein due to the presence of a trinucleotide repeat expansion mutation in the FXN gene. New therapies are on the horizon that may halt the progression of disease, making it vital to detect and initiate treatment in patients prior to disease onset. With an incidence of 1:40,000 births, Friedreich's ataxia is an attractive newborn screening target once affordable treatments are available.
Expediting new applications for the diagnosis of rare genetic conditions requires accessible specimens for research and clinical validation. The infrastructure project, The Mitochondrial Disease Biobank, is a collaboration among several Mayo Clinic researchers from multiple Departments to create a specimen repository that will help speed up our understanding and detection of these debilitating genetic conditions, and permit the centralization of sufficient study material for testing new therapies. Dr. Oglesbee is a co-principle investigator of this project.
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