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2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development

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Patient-derived cellular models of primary ciliopathies.

Lidia Pollara¹, Virginie Sottile², Enza Maria Valente^2,3

¹Department of Molecular Medicine, University of Pavia, Pavia, Italy.

Journal of Medical Genetics

|February 20, 2022

Summary

Primary ciliopathies are rare genetic disorders affecting cell function. New patient-derived cell models offer improved research into these conditions and potential therapies.

Keywords:

genetic research genetics medical

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Area of Science:

Genetics
Cell Biology
Rare Diseases

Background:

Primary ciliopathies are inherited disorders stemming from defects in the primary cilium, impacting multiple organs.
Genetic heterogeneity and patient background influence ciliopathy phenotypes, complicating research.
Limited human cell models have hindered preclinical studies and therapeutic development for primary ciliopathies.

Purpose of the Study:

To review available in vivo and in vitro models for studying primary ciliopathies.
To highlight the utility of patient-derived 2D and 3D cellular models.
To discuss the potential of these models for advancing regenerative medicine, gene therapy, and drug testing.

Main Methods:

Review of existing literature on primary ciliopathy models.
Analysis of patient-derived 2D and 3D cellular models.
Comparison of in vivo and in vitro model systems.

Main Results:

Various in vivo models exist but lack human genetic complexity.
Patient-derived 2D and 3D models preserve individual genetic backgrounds.
These advanced models facilitate studying pathomechanisms and developing targeted therapies.

Conclusions:

Patient-derived cellular models represent a significant advancement for primary ciliopathy research.
These models enable a deeper understanding of disease mechanisms.
They are crucial for developing novel therapeutic strategies, including regenerative medicine and gene therapy.