Deep Tissue and Cellular Phenotyping of APBD: A Bench to Bedside Approach
Awardee: Priya Kishnani
Institution: Duke University Medical Center
Grant Amount: $50,000.00
Funding Period: February 1, 2024 - January 31, 2025
Summary:
Adult Polyglucosan Body Disease (APBD) is an inherited metabolic disease that causes progressive neurodegeneration and reduced physical function and quality of life. There is currently no available treatment for APBD, but over the past decade, the APBD mouse model has been used to investigate potential therapeutics. However, without a full understanding of (1) the specific cells and tissues involved in APBD, and (2) how the disease pathology changes over the course of the disease, our ability to design effective treatments for APBD is limited. Utilizing a multidisciplinary approach with specialists in medical genetics and pathology, we will evaluate the extent of cellular involvement and degree of disease in human and mouse tissues. Ultimately, this work will provide precise therapeutic targets and measurable endpoints for both animal model experiments and progression to clinical trials.