Modeling Neuromuscular Diseases to Determine Molecular Drivers of Pathology and for Drug Discovery

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Background

The use of patient-derived and CRISPR gene-edited induced pluripotent stem cells (iPSCs) is revolutionizing our ability to delve into the molecular drivers of neuromuscular disease pathology from a developmental perspective. That is to say, we can now identify the initiating molecular perterbations downstream of a disease-causing mutation and track the cascade of events (transcriptional and cellular trajectories) that culminate in what we categorize as a specific disease or diagnosis in a patient. Sometimes these iPSC disease-in-a-dish models corroborate our understanding of a particular disease as studied for years in animal models. However, animal models that recapitulate human diseases are rare and more often than not, the human models and animal models do not align.

Our goal is to present and evaluate the current state of neuromuscular disease models for the purposes of uncovering molecular mechanisms and for drug discovery. We will highlight recent advances in iPSC directed differentations to lineages encompassed by neuromuscular diseases—namely, skeletal muscle as well as motor and sensory neurons. We will discuss how closely human stem cell-based models recapitulate neuromuscular disease etiology and progression. Furthermore, we will review when and why stem cell models align with well accepted animal models and when and how they don’t. Advances in gene editing technology has contributed a great deal to this endeavor for both modeling and potential therapeutic interventions. The strengths and weaknesses of this technology in both domains will be covered. What do the fields of bioengineering and materials science contribute to these disease models in terms of recreating the native microenvironment?

1. How to define a good disease model?
2. Comparison of animal models to stem cell-based ‘disease-in-a-dish’ models; strengths and weaknesses of both
3. Does the disease model recapitulate symptoms observed in the patients and are those manifestations rooted in evolutionarily conserved biochemistry/molecular biology?
4. Have iPSC disease models reached a level of sophistication that they can substitute for animal models?
5. If so, what impact with they have on the rather dismal success rates of clinical trials and how soon will that impact be reflected in decreasing cost, time to market and/or correct predictions of efficacy and safety?
6. When is it necessary to switch from a 2D disease model to a 3D model to achieve the necessary level of clinical predictive power? Is the additional complexity of a 3D model worth the time and cost?
7. What do other disciplines bring to disease modeling efforts? Bioengineering, biomaterials, etc

Topic Editor David Mack is a founder of KineaBio Inc. Topic Editor Megan Laura McCain hold a patents related to the theme of the collection.

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