Research
Current Research Projects
ELISA Biomarker Assay Development
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
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.
Learn moreActiveJAX Mouse Model Development
Dr. Cathleen (Cat) Lutz
Jackson Laboratory (JAX)
Developing additional SON-haploinsufficient mouse models through a partnership between Jackson Laboratory and the Ahn lab, expanding the preclinical toolkit for testing potential ZTTK therapies.
Learn moreActiveSON Gene Function in Neurodevelopment
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
Investigating how loss-of-function variants in the SON gene disrupt RNA splicing in developing neurons, establishing the molecular basis for targeted therapeutic approaches to ZTTK syndrome.
Learn moreActiveSmall Molecule Repurposing Screen
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
Screening libraries of existing FDA-approved and investigational compounds for molecules that can compensate for reduced SON function, potentially accelerating the path to clinical application.
Learn moreActiveZTTK Syndrome Natural History Study
Ada Lio
ZTTK SON-Shine Foundation
A comprehensive, ongoing effort to document the clinical course of ZTTK syndrome across age groups through patient registries and data-sharing platforms, establishing baseline data essential for future clinical trial design.
Learn moreActiveiPSC Cell Model Development
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
Creating the first ZTTK-derived induced pluripotent stem cell lines with matched isogenic controls, enabling researchers worldwide to study disease mechanisms across neuronal, immune, and other cell types.
Learn moreUpcomingGene Replacement Therapy Feasibility
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
Assessing the feasibility of delivering a functional copy of the SON gene to affected cells using viral vector technology, with preclinical proof-of-concept studies planned in mouse models.
Learn more