Related Experiment Video
Updated: Mar 24, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
FlyBase portals to human disease research using Drosophila models
Gillian H Millburn1, Madeline A Crosby2, L Sian Gramates2
1Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK gm119@cam.ac.uk.
Abstract:
The use of Drosophila melanogaster as a model for studying human disease is well established, reflected by the steady increase in both the number and proportion of fly papers describing human disease models in recent years. In this article, we highlight recent efforts to improve the availability and accessibility of the disease model information in FlyBase (http://flybase.org), the model organism database for Drosophila. FlyBase has recently introduced Human Disease Model Reports, each of which presents background information on a specific disease, a tabulation of related disease subtypes, and summaries of experimental data and results using fruit flies. Integrated presentations of relevant data and reagents described in other sections of FlyBase are incorporated into these reports, which are specifically designed to be accessible to non-fly researchers in order to promote collaboration across model organism communities working in translational science. Another key component of disease model information in FlyBase is that data are collected in a consistent format --- using the evolving Disease Ontology (an open-source standardized ontology for human-disease-associated biomedical data) - to allow robust and intuitive searches. To facilitate this, FlyBase has developed a dedicated tool for querying and navigating relevant data, which include mutations that model a disease and any associated interacting modifiers. In this article, we describe how data related to fly models of human disease are presented in individual Gene Reports and in the Human Disease Model Reports. Finally, we discuss search strategies and new query tools that are available to access the disease model data in FlyBase.
Insights
Fruit flies (Drosophila melanogaster) are valuable for modeling human diseases. FlyBase now offers improved Human Disease Model Reports and search tools, enhancing accessibility for researchers and promoting collaboration in translational science.
Area of Science:
- * Translational science
- * Model organism research
- * Bioinformatics
Background:
- * Drosophila melanogaster is a well-established model organism for studying human diseases.
- * There is a growing body of research utilizing fruit flies to model human disease conditions.
- * Enhancing data accessibility in model organism databases is crucial for interdisciplinary research.
Purpose of the Study:
- * To highlight improvements in the availability and accessibility of human disease model information within FlyBase.
- * To introduce new features like Human Disease Model Reports and enhanced query tools.
- * To promote collaboration between fly researchers and scientists in other model organism communities.
Main Methods:
- * Introduction of Human Disease Model Reports in FlyBase, integrating disease background, subtypes, and experimental data.
- * Utilization of the Disease Ontology for standardized data collection and robust searching.
- * Development of dedicated query tools for navigating disease model data, including mutations and modifiers.
- * Presentation of data within individual Gene Reports and the new Human Disease Model Reports.
Main Results:
- * FlyBase now provides integrated Human Disease Model Reports with comprehensive disease and experimental data.
- * Data standardization using the Disease Ontology enables more intuitive and robust searches.
- * New query tools facilitate access to information on fly models of human disease, including genetic modifiers.
- * Enhanced accessibility aims to foster collaboration in translational science.
Conclusions:
- * FlyBase has significantly improved its human disease model information resources.
- * The new features enhance data accessibility for both fly-specific and non-fly researchers.
- * These advancements support collaborative efforts in translational research using Drosophila models.
