Current Projects and Research Partnerships
Currently seeking: Clinicians who see ZTTK patient(s) and are interested in collaborating!
Ongoing Projects
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Cell models: iPSC + Isogenic control in process
Mouse models
More mouse models in progress in partnership with Jax and Ahn lab
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
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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
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Performing first small molecule repurposing screen
Evaluating feasibility and establishing preclinical proof-of-concept across gene replacement therapy, ASO, gene modulating small molecules
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To come
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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