Modeling rare diseases with induced pluripotent stem cell technology

Rare diseases, in totality, affect a significant proportion of the population and represent an unmet medical need facing the scientific community. However, the treatment of individuals affected by rare diseases is hampered by poorly understood mechanisms preventing the development of viable therapeutics. The discovery and application of cellular reprogramming to create novel induced pluripotent stem cell models of rare diseases has revolutionized the rare disease community. Through developmental and functional analysis of differentiated cell types, these stem cell models carrying patient-specific mutations have become an invaluable tool for rare disease research. In this review article, we discuss the reprogramming of samples from individuals affected with rare diseases to induced pluripotent stem cells, current and future applications for this technology, and how integration of genome editing to rare disease research will help to improve our understanding of disease pathogenesis and lead to patient therapies.