iPSC-based Rare Disease Modeling

iPSC technology represents a new model system for the study of rare diseases. Creative Bioarray is dedicated to helping our clients build stem cell models that carry patient-specific mutations to accelerate the study of rare disease mechanisms and the development of therapies. Our innovative iPSC reprogramming technology provides clients with a valuable tool for rare disease research.

iPSC for Modeling Rare Diseases

Of the approximately 7,000 unique rare diseases identified worldwide, less than 10% of patients with rare diseases are treated, representing an unmet medical need for the scientific community. However, the lack of knowledge of disease mechanisms has hindered the development of viable therapies for rare diseases. Currently, the advent of cell reprogramming technologies has allowed the generation of iPSCs-based disease models for rare diseases, fundamentally advancing the understanding of rare disease pathophysiology and pathogenesis through the developmental and functional analysis of differentiated cell types.

Several studies have already demonstrated that iPSCs show great potential in modeling the pathogenesis of rare diseases. iPSCs derived from human samples are applied and developed as a viable and complementary biological model to avoid some of the drawbacks associated with traditional approaches, such as immortalized cell lines and animal models. In addition, iPSCs combined with gene-editing technology can solve the problem of difficulty obtaining samples from patients with rare diseases.

Fig 1. iPSC generation and potential uses of iPSC-derivatives for rare disease studies.Fig.1 iPSC generation and potential uses of iPSC-derivatives for rare disease studies. (Anderson, 2018)

Our Solutions

We help our clients generate iPSCs to model a number of rare diseases using cell reprogramming techniques to accelerate research into the pathogenesis of rare diseases. Our technical support includes but is not limited to:

  • iPSC modeling of diseases involving neuronal loss, such as ALS, Ataxia-telangiectasia, Friedreich's ataxia, Cockayne syndrome, and Niemann-Pick disease Type C1.
  • iPSC modeling of rare diseases related to the heart, such as Javier and Langer Nielsen syndrome and long QT syndrome.
  • iPSC modeling of methylation-related diseases, such as Prader-Willi syndrome and immunodeficiency, centromeric instability, and facial anomalies type I (ICF1) syndrome.
  • iPSC modeling of rare pediatric disorders, such as Rett syndrome, fragile X syndrome (FXS), and autism spectrum disorders (ASDs).


  • Disease-causing mechanism discovery
  • Research on drug screening and drug development
  • Drug toxicity test
  • Clinical medicine and disease analysis


  • Advanced instruments and highly trained technicians
  • Comprehensive quality assessment system for converted cells
  • Short experiment period and high-quality service

Creative Bioarray is a biotechnology company experienced in the development and application of cellular reprogramming technologies. We use iPSC to model rare diseases to help customers make new breakthroughs in understanding the pathogenesis of some rare diseases. Our professionalism and service attitude have received positive feedback from scientists all over the world. If you need iPSC-related technical support, please contact us.


  1. Anderson, R.H.; Francis, K.R. Modeling rare diseases with induced pluripotent stem cell technology. Molecular and cellular probes. 2018, 40: 52-59.
For Research Use Only. Not For Clinical Use.