PWS Resource Development

Abstract:

FPWR recognizes that supplying researchers with the tools to conduct their studies is critical for accelerating progress, and thus, we have invested in the development of several models of PWS.

 

PWS Induced Pluripotent (iPS) cells

FPWR supported the creation of the first PWS iPS cells which will allow us to determine how PWS cells are different from typical cells.  These cells will also provide a platform to test small molecules, existing drugs, new drugs, genes, etc as potential therapies.

 

PWS Pig Model Development

 

Mouse Models

  • Franke: Snord 116 snoRNA knockout
  • Resnick: Conditional IC knockout
  • Jiang: Conditional knockout of PWS entire locus
  • Gao: Modification of Snord 116 and Magel2 mouse models to express marker protiens in specific neurons

 

Magel2 and Snord 116 Rat Models

Most recently, FPWR has funded the development of two rat models, each with a disruption of a critical gene in the PWS region.  The full characterization of these new rat models and their use in drug development promises to bring a host of new opportunities to understand and treat PWS.