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Research Interests for Patients

I have extensive experience and a long-standing interest in using cell biological and genetic approaches to uncover mechanistic links between chromosomal aneuploidy and human disease. My studies of aneuploidy began as a graduate student in Dr. Mark Winey’s laboratory at the University of Colorado-Boulder, where I discovered a shared localization of yeast Ndc1p to spindle poles and nuclear pore complexes and I identified NDC1 gene dosage effects — both haploinsufficiency and overexpression — that lead to genetic instability and aneuploidy in yeast. Based on these findings, we hypothesized that the phenotypes associated with altered NDC1 gene dosage and its ability to induce aneuploidy could serve as a model for understanding human diseases associated with genetic instability, including cancer and neurodegenerative disease. In my postdoctoral training, I worked in cancer biology labs at the Mayo Clinic College of Medicine and Wake Forest University School of Medicine, and then pursued additional training in molecular and cellular neuroscience at the Marine Biological Laboratory and at Stanford University School of Medicine. At Stanford University, my research was aimed at understanding the role of a pair of RAB5 effectors — called APPL1 and APPL2 — in neurotrophin- and endosome-mediated signaling pathways in neurodegenerative disease with a special focus on the connections between Alzheimer’s disease and Down syndrome/Trisomy 21. Since joining Dr. Potter’s research group at the University of Colorado Alzheimer's and Cognition Center in 2015, I have been involved in the design, implementation, analysis, and publication of research projects focused on the connections between aneuploidy, Alzheimer’s disease, and other forms of neurodegenerative disease, such as frontotemporal lobar degeneration (FTLD) and Huntington’s disease, links between Alzheimer’s disease and Down syndrome, and developing novel Alzheimer’s disease therapeutics.