Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.

Area of Science:

• Biomedical Research
• Genetics
• Regenerative Medicine

Background:

• Organoid models bridge the gap between cell cultures/animal models and human disease states.
• Genetic fidelity of organoids enhances biological relevance and translational validity for genetic disorders.

Purpose of the Study:

• Systematically analyze organoid models for genetic diseases across various organs.
• Highlight organoids' roles in gene discovery, mechanism elucidation, and therapeutic strategy advancement.
• Address limitations and underscore potential for personalized medicine.

Main Methods:

• Systematic review of established organoid models for genetic diseases.
• Analysis of organoid applications in gene identification, disease mechanism studies, and therapy development.
• Focus on monogenic disorders, copy number variations (CNVs), and aneuploidies.

Main Results:

• Organoids are pivotal in identifying pathogenic genes and understanding disease mechanisms.
• Organoid platforms advance drug screening, gene editing, and transplantation strategies.
• Organoids show potential for personalized medicine via multi-omics and bioengineering.

Conclusions:

• Organoid models significantly accelerate mechanistic discoveries and clinical translation in genetic disease research.
• Despite limitations in complexity and scale, organoids offer promising avenues for personalized genetic medicine.
• This review provides a comprehensive overview for researchers utilizing organoid approaches.