Marshfield Clinic Research Foundation
1000 N. Oak Ave
Marshfield, WI 54449
BS Biochemistry and Molecular Biology, 2000, University of Wisconsin-Eau Claire
PhD Biochemistry and Molecular Biology, 2012, Mayo Clinic Graduate School, Rochester, MN
Postdoctoral Fellowship, Computation & Informatics in Biology & Medicine (CIBM), 2012, UW-Madison, Madison, WI
Dr. Hebbring's research interests include understanding how genetics contributes to human health. There are many examples of genetic variants/mutations that cause rare Mendelian diseases. Some of the best clinically relevant variants are loss of function mutations that result in a gene’s function being attenuated. Obvious examples could include nonsense, splicing, and frame-shift variants. Recent data from the “1000 Genomes Project” estimated that healthy individuals often carry multiple deleterious mutations causing inherited disorders. In addition, this study estimated that individuals may carry more than 250 novel loss-of-function variants, with many in clinically relevant genes. Given the importance of these types of variants as it relates to gene function and their potential role in human disease, his work is aimed at investigating the potential correlational role of loss of function polymorphisms, of unknown clinical relevance, with a spectrum of human disease phenotypes as defined by electronic health records within Marshfield Clinic’s Personalized Medicine Research Project. These phenome-wide studies have resulted in disease focused studies, including a collaborative multidisciplinary project with Dr. Akihiro Ikeda to study the role of ARMS2 in AMD.
Link to PubMed listing