Jay Vivian, PhD

Jay Vivian is a Research Associate Professor and Scientific Director of the Transgenic and Gene Targeting Facility at the University of Kansas Medical Center. Dr. Vivian also is the Director of the Rare Disease Research Center at Children's Mercy Research Institute. His research focuses on understanding rare and undiagnosed diseases and novel variants identified in patient genome sequencing data, using genetically modified mice and pluripotent stem cells. These efforts make extensive use of genome editing methods. A native of Illinois, he obtained his PhD in developmental genetics at the University of Texas M.D. Anderson Cancer Center. He currently serves on the Board of Directors of multiple rare disease foundations, including RareKC and the Mowat-Wilson Syndrome Foundation.

My research uses the mouse as a genetic model for understanding rare and undiagnosed diseases. Our lab seeks to understand the function of novel genetic variants identified from patient genome sequencing, using genome editing to introduce these variants into mouse and pluripotent stem cell lines. Our current efforts focus on pediatric neurological disorders. Through these efforts we develop important tools for understanding the etiology of these disorders, and produce relevant models for therapeutics.

My group is interested in understanding the signaling pathways and genetic hierarchies that regulate gene expression, stem cell self-renewal, and differentiation in pluripotent stem cells. A major project seeks to understand the function of TGF-beta-related signaling pathways in stem cell self-renewal. These efforts have uncovered important and previously uncharacterized roles for the Nodal and BMP signaling pathways in the dynamic heterogeneity that exists in pluripotent cells.

I have a sustained interest in developing novel strategies to generate mutant and transgenic animals to support these studies. These efforts leverage our knowledge of both stem cell and developmental biology and molecular genetics. CRISPR/Cas9 has become an essential tool for our work, and we work closely with the staff at the KUMC Transgenic and Gene Targeting Institutional Facility to develop efficient methods for making genetic modifications to the mouse in vivo and in human pluripotent stem cells.