Research
ELISA Biomarker Assay Development
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
Started January 2024
Funding
Foundation-funded
Developing an ELISA-based assay to measure quantitative SON protein levels in patient samples, establishing the first objective biomarker for ZTTK syndrome severity and treatment response.
A critical gap in ZTTK research is the absence of a quantitative measure for SON protein levels. This project develops an enzyme-linked immunosorbent assay (ELISA) capable of measuring SON protein concentrations in blood or tissue samples from ZTTK patients.
An accurate biomarker serves multiple purposes: it can help characterize disease severity across the ZTTK population, provide an objective endpoint for future clinical trials, and enable researchers to measure whether experimental therapies successfully increase SON protein production.
The assay is being validated against samples from the haploinsufficient mouse model, where the expected reduction in SON protein levels is known, before transitioning to human patient samples through collaborating clinical sites.