Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths
| Autor: | Isabella Zafra, Peter A. Kropp, Rosemary Bauer, Andy Golden, Carina Graham |
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| Rok vydání: | 2021 |
| Předmět: |
Patient-specific alleles
ved/biology.organism_classification_rank.species Neuroscience (miscellaneous) Medicine (miscellaneous) Review Disease Computational biology General Biochemistry Genetics and Molecular Biology Human health Rare Diseases Immunology and Microbiology (miscellaneous) Drug Discovery Pathology RB1-214 Animals Humans Drug screens Caenorhabditis elegans Model organism biology ved/biology Drug discovery C. Elegans as a Disease Model Genetic screens biology.organism_classification Disease modeling Phenotype C. elegans Medicine Relevant information Rare disease Genetic screen |
| Zdroj: | Disease Models & Mechanisms article-version (VoR) Version of Record Disease Models & Mechanisms, Vol 14, Iss 8 (2021) |
| ISSN: | 1754-8411 1754-8403 |
| DOI: | 10.1242/dmm.049010 |
| Popis: | Although nearly 10% of Americans suffer from a rare disease, clinical progress in individual rare diseases is severely compromised by lack of attention and research resources compared to common diseases. It is thus imperative to investigate these diseases at their most basic level to build a foundation and provide the opportunity for understanding their mechanisms and phenotypes, as well as potential treatments. One strategy for effectively and efficiently studying rare diseases is using genetically tractable organisms to model the disease and learn about the essential cellular processes affected. Beyond investigating dysfunctional cellular processes, modeling rare diseases in simple organisms presents the opportunity to screen for pharmacological or genetic factors capable of ameliorating disease phenotypes. Among the small model organisms that excel in rare disease modeling is the nematode Caenorhabditis elegans. With a staggering breadth of research tools, C. elegans provides an ideal system in which to study human disease. Molecular and cellular processes can be easily elucidated, assayed and altered in ways that can be directly translated to humans. When paired with other model organisms and collaborative efforts with clinicians, the power of these C. elegans studies cannot be overstated. This Review highlights studies that have used C. elegans in diverse ways to understand rare diseases and aid in the development of treatments. With continuing and advancing technologies, the capabilities of this small round worm will continue to yield meaningful and clinically relevant information for human health. Summary: Rare disease research has benefited from the generation of accurate genetic models. Here, the breadth of capabilities in rare disease modeling with C. elegans is emphasized through discussion of individual research stories. |
| Databáze: | OpenAIRE |
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