Open AccessReview
Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases
by
Sergio Casas-Tintó
Sergio Casas-Tintó
Institute for Rare Diseases Research, Instituto de Salud Carlos III (ISCIII), 28222 Madrid, Spain
Submission received: 28 August 2024
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Revised: 25 October 2024
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Accepted: 30 October 2024
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Published: 6 November 2024
Simple Summary
Rare and ultra-rare diseases are challenging to study and treat because we do not fully understand their causes or how they work. These diseases often show a wide variety of symptoms and complex genetic factors, making research difficult. There are over 7000 different rare diseases affecting nearly 300 million people worldwide, but because each disease affects only a small number of people, the resources dedicated to studying each one effectively are a limiting factor. To help with research, scientists use animal models to explore how these diseases develop. One of the most useful models is the fruit fly, Drosophila melanogaster. This popular model in research has a short life cycle, is easy to maintain in a lab, and has a fully mapped genome. Moreover, many of its genes are similar or equivalent to those in humans, making it a valuable tool for studying genetic disorders and initiating the development of treatments for rare diseases. This text looks at how Drosophila melanogaster is used in research on rare diseases, emphasizing its importance and potential in advancing biomedical research.
Abstract
Rare and ultra-rare diseases constitute a significant medical challenge due to their low prevalence and the limited understanding of their origin and underlying mechanisms. These disorders often exhibit phenotypic diversity and molecular complexity that represent a challenge to biomedical research. There are more than 6000 different rare diseases that affect nearly 300 million people worldwide. However, the prevalence of each rare disease is low, and in consequence, the biomedical resources dedicated to each rare disease are limited and insufficient to effectively achieve progress in the research. The use of animal models to investigate the mechanisms underlying pathogenesis has become an invaluable tool. Among the animal models commonly used in research, Drosophila melanogaster has emerged as an efficient and reliable experimental model for investigating a wide range of genetic disorders, and to develop therapeutic strategies for rare and ultra-rare diseases. It offers several advantages as a research model including short life cycle, ease of laboratory maintenance, rapid life cycle, and fully sequenced genome that make it highly suitable for studying genetic disorders. Additionally, there is a high degree of genetic conservation from Drosophila melanogaster to humans, which allows the extrapolation of findings at the molecular and cellular levels. Here, I examine the role of Drosophila melanogaster as a model for studying rare and ultra-rare diseases and highlight its significant contributions and potential to biomedical research. High-throughput next-generation sequencing (NGS) technologies, such as whole-exome sequencing and whole-genome sequencing (WGS), are providing massive amounts of information on the genomic modifications present in rare diseases and common complex traits. The sequencing of exomes or genomes of individuals affected by rare diseases has enabled human geneticists to identify rare variants and identify potential loci associated with novel gene–disease relationships. Despite these advances, the average rare disease patient still experiences significant delay until receiving a diagnosis. Furthermore, the vast majority (95%) of patients with rare conditions lack effective treatment or a cure. This scenario is enhanced by frequent misdiagnoses leading to inadequate support. In consequence, there is an urgent need to develop model organisms to explore the molecular mechanisms underlying these diseases and to establish the genetic origin of these maladies. The aim of this review is to discuss the advantages and limitations of Drosophila melanogaster, hereafter referred as Drosophila, as an experimental model for biomedical research, and the applications to study human disease. The main question to address is whether Drosophila is a valid research model to study human disease, and in particular, rare and ultra-rare diseases.
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MDPI and ACS Style
Casas-Tintó, S.
Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases. Insects 2024, 15, 870.
https://doi.org/10.3390/insects15110870
AMA Style
Casas-Tintó S.
Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases. Insects. 2024; 15(11):870.
https://doi.org/10.3390/insects15110870
Chicago/Turabian Style
Casas-Tintó, Sergio.
2024. "Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases" Insects 15, no. 11: 870.
https://doi.org/10.3390/insects15110870
APA Style
Casas-Tintó, S.
(2024). Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases. Insects, 15(11), 870.
https://doi.org/10.3390/insects15110870
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