As the year comes to a close, we wanted to take a moment to highlight the current breadth and depth of ongoing research efforts for SETBP1-HD in relation to model development. In May 2025, we released our Research Strategy outlining where we are as a Society and where we plan to focus in the years ahead. One key focus area included model development and characterization. Our goal as a foundation is to provide resources and pair with different research entities to advance cellular and animal models to uncover disease mechanisms to ultimately identify safe and effective treatments for individuals with SETBP1-HD. The Model Overview Update infographic (see above) details existing and under-progress models and lines to achieve that goal.

References/Resources:

• Zebrafinch:
  • https://www.nature.com/articles/s41598-024-75353-w
• FIbroblasts
  • https://www.setbp1.org/research/ 
• Zebrafish
  • https://www.setbp1.org/creation-of-zebrafish-models-to-provide-unique-insights-into-impact-of-setbp1-hd/ 
• Mice
  • https://www.jax.org/strain/033281# 
  • https://www.mousephenotype.org/data/genes/MGI:1933199 
  • https://www.setbp1.org/reversible-mouse/ 
  • https://www.setbp1.org/grant-award/ 
• Brain Organoids
• Whole Blood
  • ​​https://www.sfari.org/resource/simons-searchlight/ 
• Fibroblasts
  • https://www.setbp1.org/research/ 
• iPSCs
  • https://www.setbp1.org/grant-award/ 
  • https://pmc.ncbi.nlm.nih.gov/articles/PMC11443744/ 
  • https://www.setbp1.org/research/ 
  • https://www.sfari.org/resource/sfari-base/ 
• hESCs
  • https://pubmed.ncbi.nlm.nih.gov/36805818/ 
  • https://www.mousephenotype.org/data/genes/MGI:1933199 

Authored by Jordan Whitlock, PD – SETBP1 Society Science Coordinator