Studying Rare Diseases Using induced Pluripotent Stem Cell (iPSC)-based Model Systems

About this Research Topic

Background

It is believed there are >7000 rare diseases with an estimated global incidence of 10%. Thus, approximately 300 million individuals worldwide are believed to suffer from a rare disease. In addition, 94% of rare diseases have no approved therapy. Lastly, the yearly economic cost of rare diseases per person to health sectors worldwide has been calculated to be 10-fold greater than any other known disease. Defining the pathogenesis and identification of therapeutics for rare diseases thus represents a critical scientific need. While groundbreaking studies have demonstrated that induced pluripotent stem cell (iPSC) models of a variety of rare diseases provide unique opportunities to define disease pathogenesis and identify therapeutic targets, there is a tremendous unmet need for novel iPSC-based studies into rare disease mechanisms.

Around 80% of rare diseases are estimated to have a genetic origin, which makes patient-specific induced pluripotent stem cells (iPSC) invaluable model systems to tackle rare diseases with complex genetic disorders. Human iPSC-based platforms can provide scalable, renewable, and physiologically relevant human cell type(s) for rare disease research. Such in vitro human disease models can be used to better understand disease-associated mechanisms, utilized in drug discovery, or used for toxicity studies. The FDA Modernization Act 2.0, which allows drug candidates to graduate to human studies if they have been tested in cell-based assays without the need for animal testing, will increasingly drive interest in iPSC-based models in relevant studies.

This research topic is open to scientists, clinicians, policy-makers, and entrepreneurs. The main goal of this special collection is to compile cutting-edge iPSC research and insightful reviews which significantly contribute to the advancement of iPSC-based rare disease research. Manuscripts are expected to address the use of iPSCs or iPSC derivatives for modeling rare diseases, drug discovery, toxicity studies, or translational applications.

This research topic aims to collect original research articles and reviews focused on the use of human induced pluripotent stem cells for the study of rare diseases. We welcome original research articles and review articles including but not limited to:

• Drug discovery against rare diseases using iPSC-derived cellular models

• Toxicity studies within rare disease iPSC-derived cellular models

• Translational studies utilizing the transplantation of iPSC-derived cells or cellular products into animal models for the treatment of rare disease

• Developmental and mechanistic studies which utilize iPSC-derived cellular models of rare disease

• Analyses of iPSCs from rare disease patient cohorts to correlate genotype-clinical phenotype to cellular outcomes

• Cross-sectional studies which compare and contrast iPSC models of rare diseases with non-rare disease models to identify mechanistic commonalities

• Manuscripts that identify novel biomarkers or therapeutic targets, compare rare disease iPSC models across cohorts of individuals or identify mechanistic overlap with more common diseases will be of particular interest.

Keywords: disease modelling, drug discovery, toxicity assays, induced pluripotent stem cells, rare diseases

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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