There have been multiple techniques taken in the exploration of human disease genes. The discovery of those genes not only reveals a significant amount about the pathway of disease development, but also opens up new alternatives for improved diagnosis and treatment. Studies utilising this relatively simple organism strike a fine balance between the ability to mimic numerous aspects of the human disease while also providing an amazing array of potent cell biological, genetic, and genomic techniques for disease genetic research. C. elegans and certain other non-mammalian concepts have provided and therefore will proceed to provide critical insights into the pathogenesis of human diseases.

Whereas humans clearly excel at imitating human disease, there still are both practical and moral constraints to studying diseases in humans. Numerous different mammals, most particularly rodents, have shown to be extremely beneficial for modelling as well as analysing human diseases; however, mice are restricted in terms of both how well they mimic a few diseases and the capability to research them quickly. Cell line research findings have been particularly constructive in characterising signalling pathways: for instance, with the emergence of tools such as RNA interference (RNAi) and CRISPR/Cas9 genome editing. In addition to more traditional biochemical methodologies, however, they rather are constrained in that cumulative organismal physiology, which is typically not prevalent in cell culture.

Non-mammalian model organisms; for instance the fruit fly Drosophila melanogaster, the zebrafish Danio rerio, as well as the nematode Caenorhabditis elegans provide a middle ground, enabling for convenience of study while retaining the physiology of an entire animal as well as the capabilities to replicate at least a few components of human disease. These and various other model organisms have contributed significantly in the scientific breakthrough of human disease genes. Some current researches focus on the C. elegans to be used as a non-mammalian model to be used for the detection of the human disease gene.