Current Projects

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

Ongoing Projects

Cell models: iPSC + Isogenic control in process
Mouse models
- Haploinsufficient ZTTK mouse developed by the Ahn lab
- 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
- 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