NIH Research Festival
The development of therapies for rare diseases remains a huge challenge, with ~10,000 rare diseases affecting 10% of the US population, and only ~5% having an FDA approved treatment. The lack of disease relevant in vitro and animal models, the small numbers of patients and heterogeneous genetic mutations make it difficult to efficiently find treatments for rare disease patients. Therefore, there is a critical need for personalized and clinically predictive assays for the development of effective therapies for rare diseases. The recent FDA Modernization Act 2.0 allows for alternative to animal testing for purposes of drug and biological products applications for clinical testing. 3D cellular models with patient primary cells and iPSC-derived cells that mimic the physiological complexity of human tissues and organs are being developed as predictive assays for drug discovery and therapeutic development. At NCATS, we are addressing the need for predictive cellular models for rare disease by implementing a collaborative platform (i3D-RARE) of stem cell derived 3D cellular models (e.g., spheroids, organoids, bioprinted tissues, and tissue chips). The i3D-RARE platform has four key strategic goals: (1) production of rare disease patient iPSCs and iPSC-differentiated cells, (2) production of personalized rare disease iPSC-derived 3D organotypic cellular models, (3) operationalization of the use of these 3D organotypic models for therapeutic testing and drug development, and (4) dissemination of acquired knowledge to the public. We believe that i3D-RARE will foster the use of alternative methods to animal testing and accelerate the development of more effective treatments for rare diseases.
Scientific Focus Area: Clinical Research
This page was last updated on Monday, September 25, 2023