Sarah Kazemeini (Medicine) was awarded 1st place at the 26th Annual Graduate & Professional Student Research Forum at 51ԹϺ with her podium presentation, “Alzheimer’s and the APP Gene: Insights from the International Mouse Phenotyping Consortium.”
This study emphasizes the amyloid precursor protein (APP) gene's significant role in Alzheimer's disease (AD) progression, particularly how mutations contribute to amyloid plaque formation and neuronal dysfunction. Leveraging the International Mouse Phenotyping Consortium (IMPC), which has genetically engineered mice to study gene functions—including APP knockouts—the research identified seven phenotypes indicative of AD: decreased grip strength, higher circulating calcium levels, short tibia, thinner retinas, preweaning lethality, and increased blood urea nitrogen levels. The analysis found the thyroid hormone receptor alpha (Thra) gene shared five of these APP-related phenotypes. Similarly, genes such as Bscl2, Lep, Dnase1l2, Zfp445, and Dbn1 shared four, pointing to intricate genetic interactions and pathways in AD. These insights, derived from the IMPC's extensive database, not only advance genetic and disease mechanism understanding but also highlight the potential for identifying new AD biomarkers and therapeutic targets through phenotypic similarity analysis. This innovative approach underlines phenotypic analysis's value in revealing complex genetic correlations, offering new avenues for Alzheimer's research and treatment strategies.
In addition to Kazemeini's 1st place award, the following contributed to the study's research: Nabih Ghani, John Rafanan, Ryan Shih, and Joseph Wilcox.
