The Center for Precision Disease Modeling’s mission is to serve the research community by providing Precision Disease modeling and variant functional studies, and to develop precision therapeutic treatments that benefit the patients. Here, we selected four demonstration projects from the genetic variants submitted to CPDM by either the clinicians in our own Pre-clinical Section or by outside researchers who had heard of our service. These demonstration projects fully illustrate the capacity and many unique features of our DMU.

• Powerful fly model applied to identify novel disease genes and variants for FSGS: NUP160
• Using flies to model patient-specific candidate genetic variant for Congenital Heart Disease: WDR5
• Validation of candidate disease gene and its variant for Nephrotic Syndrome in flies: CD2AP
• Dietary treatment discovered in fly used to develop potential precision therapeutic treatment for patients: COQ2
• Using a Zebrafish model to identify potential therapeutic chemical compounds for Congenital Aortic Coarctation
• Matrigel mattress system for preclinical cardiotoxicity testing using human-induced pluripotent stem cells (iPSC)