Related Experiment Video
Updated: May 28, 2026
08:13
Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
Published on: February 20, 2015
Modeling human disease in humans: the ciliopathies
Gaia Novarino1, Naiara Akizu, Joseph G Gleeson
1Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla 92093, USA.
Cell
|October 4, 2011
Summary
The genetic basis of Mendelian diseases is nearing completion. Ciliopathies, caused by primary cilium disruption, exemplify the next challenge: understanding disease mechanisms and developing therapies using genetic insights.
Area of Science:
- Genetics
- Molecular Biology
- Cell Biology
Background:
- The genetic basis of most human Mendelian diseases is nearing full elucidation.
- Understanding disease mechanisms and developing therapies is the next frontier in human genetics.
- Ciliopathies, multi-organ disorders stemming from primary cilium dysfunction, serve as a model for this transition.
Purpose of the Study:
- To examine how genetic discoveries are transforming the study of human diseases.
- To highlight the ciliopathies as a paradigm for integrating genetic, proteomic, and cell biology data.
- To provide insights into the future direction of human genetics research.
Main Methods:
- Convergence of data from mutant gene discovery.
- Application of proteomics to identify disease-related proteins.
- Utilizing cell biology techniques to understand ciliary function and dysfunction.
- Analysis of phenotypically distinct conditions unified as ciliopathies.
Main Results:
- Over a dozen phenotypically distinct conditions are now recognized as ciliopathies.
- The study of ciliopathies integrates diverse data types, bridging simple and complex genetic conditions.
- This integration reveals fundamental disease mechanisms and therapeutic targets.
Conclusions:
- The genetic resolution of Mendelian diseases is paving the way for mechanistic insights and therapeutic development.
- Ciliopathies represent a key area where genetic information is being translated into biological understanding and potential treatments.
- The approach used for ciliopathies offers a roadmap for future human genetics research.
Related Concept Videos
01:22Microtubules in Signaling
The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:05Mechanism of Ciliary Motion
The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
02:43Mouse Models of Cancer Study
Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...