Many people are afflicted with rare illnesses of unknown cause, and finding a common link to such under-studied or "orphaned" diseases as Bardet-Biedl, Alstrom and Meckel-Gruber syndromes can significantly advance the search for causes and treatment. Now, the same Johns Hopkins research team that first identified flaws in the work of tiny, hair-like structures on the surface of cells called cilia as such a common link has compiled - and made available on the World Wide Web - a database of all genes known to contribute to cilia operations in the body.
"It was hard labor but worth it to help accelerate research and drive the development of potential drug targets and cures for these diseases," says the project's leader, Nicholas Katsanis, Ph.D., an associate professor of molecular biology and genetics and ophthalmology at the McKusick-Nathans Institute of Genetic Medicine at Hopkins.
"But what's equally exciting is that the database should also advance the understanding of much more common diseases, because abnormal cilia are looking as if they have a role in these as well," he adds.
The new Web-based resource will be described online Aug. 29 at Nature Genetics and will be freely available to all researchers.
"In recent years it's become clear that there is a broad spectrum of human disorders - including polycystic kidney disease and left-right axis defects, for example - that share similar clinical problems and cilia malfunctions," says Katsanis.
Cilia are organelles whose main function was once thought confined to helping one-celled organisms propel themselves around. Although they had been observed in many tissues in humans and other mammals, some researchers considered them "vestigial," an evolutionary relic from our progenitors. But a small band of investigators, including Katsanis at Hopkins, have begun to assign function to cilia in numerous cell types in the human body and speculate that "anything so highly
Contact: Audrey Huang
Johns Hopkins Medical Institutions