Current Projects and Research Partnerships

Currently seeking: Clinicians who see ZTTK patient(s) and are interested in collaborating!

Ongoing Projects

  • Cell models: iPSC + Isogenic control in process

    Mouse models

    Collating our latest understanding of ZTTK to:

    • Develop a Care Recommendations manual for physicians

    • Complete a GeneReview chapter, a point-of-care resource for clinicians

    • Scoping a project to develop an ELISA which is basically a test that measures the relative quantitative level of SON protein

    • Evaluate how ZTTK impacts haploinsufficient ZTTK mouse

    • Performing first small molecule repurposing screen

    • Evaluating feasibility and establishing preclinical proof-of-concept across gene replacement therapy, ASO, gene modulating small molecules

  • To come

  • To come

Our Research Funding Policy

The ZTTK SON-Shine Foundation is committed to accelerating high-impact, patient-centered research. To ensure that every dollar donated directly supports scientific progress for ZTTK syndrome, we maintain a no indirect or overhead cost policy for all research funding.

This approach aligns with best practices across rare disease foundations and reflects our responsibility to our donor community and patient families.

We prioritize:

  • Transparent, milestone-driven funding

  • Timely sharing of research outputs

  • Open science principles to maximize collaboration and reproducibility

We welcome partnerships with academic and clinical researchers who share our commitment to improving outcomes for individuals with ZTTK syndrome. If you’re interested in collaborating or applying for funding, please contact us at alio@zttk.org