29 Association Between ASAH2 Variant and Ceramide Levels in a Community-Based NHPI Cohort

Faculty Mentor: William Holland (Nutrition and Integrative Physiology, University of Utah)

Conducting research on the association between the ASAH2 variant and ceramide levels in a Native Hawaiian and Pacific Islander (NHPI) cohort has been a transformative experience both academically and personally. This project deepened my understanding of molecular genetics and metabolic processes, and it also reshaped how I view the importance of culturally relevant research in addressing health disparities.

One of the most meaningful aspects of this experience was its direct connection to the NHPI community. Exploring how the V171L variant in the ASAH2 gene may contribute to ceramide accumulation and increased disease risk gave me a stronger sense of purpose in my work. It reminded me that research isn’t just about data—it’s about people, especially those who have historically been left out of scientific studies. I grew more confident in reading and interpreting scientific literature, and I learned how to communicate my findings clearly, whether presenting to peers, mentors, or members of the broader community.

The research process came with challenges. One difficulty was interpreting the biological function of the variant and linking that to clinical outcomes. It required constant learning, refining hypotheses, and staying open to new information. There were times when the results were unclear or didn’t support my initial assumptions, which was frustrating. But those moments taught me resilience and patience, as well as the value of mentorship and teamwork. Another challenge was learning how to handle community-specific health data with sensitivity and care. I realized that working with Indigenous and underrepresented populations requires more than just scientific skill—it also requires cultural respect, transparency, and ethical responsibility.

This research experience has had a lasting impact on my academic and career goals. It confirmed my interest in genetics and metabolic health but also sparked a deeper passion for public health and equity. I now hope to pursue a career that bridges biomedical research with culturally grounded approaches to healthcare. I want to be part of efforts that not only uncover the biological basis of disease, but also empower communities with knowledge and solutions that honor their identity and lived experiences.

In all, this project helped me grow as a student, a scientist, and a community advocate. It reminded me that research can be a powerful tool for change when it is done with purpose, inclusion, and heart.

Bibliography

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Nicholson, R. (2024). Characterization of a novel ASAH2 variant associated with increased circulating ceramides and kidney dysfunction. Advance online publication. Journal of the American Society of Nephrology.

Parveen, F., & Cornell, R. B. (2019). Role of ceramideases in sphingolipid metabolism and human disease. International Journal of Molecular Sciences, 20(19), 4831.

Gurung, R. L., Prasad, R., & Huang, Y . (2024). Association of plasma ceramide with decline in kidney function in patients with type 2 diabetes. Journal of Clinical Lipidology, 18, 100–110.

University of Utah Health. (2025, November 12). New drug protects mitochondria and prevents kidney injury in mice. University of Utah Health Newsroom.