Disease Modeling

Disease modeling has enabled scientists to study a range of human diseases in the lab, overcoming many of the challenges of obtaining donor tissues from patients. Recent advances in genome editing in stem cells to recapitulate in vitro “disease in dish” promises a better understanding of underlying biological mechanisms of human diseases.

Our comprehensive tools, protocols and services are designed to help researchers overcome many challenges of genome editing using primary and stem cells to construct human disease models. Combined with recent advancements in genome editing technologies we enable scientists to gain new insights into human diseases and with the advantages of in vitro human disease modeling, including:

• Streamlined isogenic cell line generation
• Unlimited number of human iPSCs
• Controlled experimental setting
• Supports systematic evaluation of genetic mutations

Pluripotent stem cells (PSCs) show promise in many research areas, especially in disease modeling. By reprogramming donated somatic cells exhibiting disease morphology, a potentially unlimited source of induced pluripotent stem cells (iPSCs) offers the ability to expand, differentiate, and study affected human cells without another animal model. Physiologically relevant cellular models can accelerate the discovery of disease mechanisms. Genome editing in induced pluripotent stem cells (iPSCs) has been demonstrated to be highly effective for generating disease models for both monogenic and complex genetic disorders. Using iPSCs to model disease allows researchers to examine how specific types of cells are affected by a disease.

Isogenic disease models that compare healthy donor cells to patient donor cells can introduce high patient-to-patient variability and confound experimental results. Advancements in genome editing technologies such and CRISPR /Cas9 and TALEN systems now enable construction of human isogenic controls with less variability to help mitigate these problems. The ability to engineer cells creates obvious advantages by eliminating genetic variability that occurs from patient to patient, providing more consistent phenotypes with every trial.

We created, modified, and used many protocols while building the cellular disease model case studies. Listed here are the most popular protocols and media used in the stem cell workflow typically employed in our research, grouped into culture, reprogramming and editing, characterization and differentiation workflow segments.