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Updated: May 13, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models
Paige Hall1,2, Michael Wangler1,2, Jonathan Andrews1,2
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA ; email: michael.wangler@bcm.edu, jonathan.andrews@bcm.edu.
Abstract:
Though individually rare, rare diseases collectively affect nearly 1 out of 30 individuals, highlighting the continued need for and importance of research on these disorders. We argue that the recent work in identifying and diagnosing previously undiagnosed diseases is only the beginning. To meet this need, animal models have played an important role in studying rare and undiagnosed diseases by providing functional and biological information to validate candidate disease genes. Specifically, nonmammalian models like nematode worms (Caenorhabditis elegans), fruit flies (Drosophila melanogaster), and zebrafish (Danio rerio) provide significant advantages to the scientific community and have, unsurprisingly, been essential in many advances in the rare disease field and beyond. Given this success, new priorities are emerging on how to use these animal models to drive therapeutic-focused research. In this review, we discuss how these common nonmammalian models have pointed to new therapeutic directions and are used to both test and create therapies. Through the characterization of genetic mechanisms and emerging protocols like drug repurposing, animal models have never been as important to the rare disease field as they are now. Ongoing mechanistic discoveries and therapeutic advances not only have the potential to improve our management of rare disease but may also have implications for more common disorders across multiple areas of medicine.
Insights
Nonmammalian animal models like C. elegans, fruit flies, and zebrafish are crucial for rare disease research. These models accelerate the discovery and development of new therapies for both rare and common diseases.
Area of Science:
- Genetics and Genomics
- Translational Medicine
- Developmental Biology
Background:
- Rare diseases collectively impact a significant portion of the population, necessitating advanced research.
- Identifying and diagnosing rare diseases has improved, but therapeutic strategies require further development.
- Animal models are vital for understanding disease mechanisms and validating therapeutic targets.
Purpose of the Study:
- To review the role of nonmammalian animal models in rare disease research.
- To highlight how these models drive therapeutic discovery and development.
- To discuss the implications of findings from rare disease research for common disorders.
Main Methods:
- Review of existing literature on the use of Caenorhabditis elegans, Drosophila melanogaster, and Danio rerio in rare disease research.
- Analysis of how these models contribute to understanding genetic mechanisms.
- Examination of therapeutic strategies, including drug repurposing, tested in animal models.
Main Results:
- Nonmammalian models provide essential functional and biological data for validating disease genes.
- These models have been instrumental in identifying new therapeutic directions for rare diseases.
- Characterization of genetic mechanisms and drug repurposing protocols are advancing therapeutic development.
Conclusions:
- Nonmammalian animal models are increasingly important for rare disease research, offering significant advantages.
- These models are key to both testing and creating novel therapies.
- Advances in rare disease research using animal models may benefit the treatment of more common medical conditions.
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