She is a world expert on the deletion and duplication of a small but fascinating region of the genome, 7q11.23 on chromosome 7, which contains just 25 genes. The deletion of this region on one of the pairs of chromosome 7 leads to Williams-Beuren syndrome (WBS). WBS is a rare neurodevelopmental disorder that affects nearly every system in the body.
In addition to maintaining her active research program, Osborne remains involved in the IMS and her cross-appointed departments of Medicine and Molecular Genetics. She is an instructor in the popular IMS course titled ‘Molecular Medicine in Human Disease,’ a member of the IMS curriculum committee, and she recently participated in the IMS strategic planning initiative.