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Scientific American article highlights UMMS research that led to the discovery of ciliopathies

By Jim Fessenden

UMass Medical School Communications

diciembre 31, 2014
  Scientific American, George Witman, cilia, polycystic kidney disease, ciliapathies, cilia dysfunction, UMass Medical School, UMMS, UMassMed
  George B. Witman, PhD

Over the last decade cilia, the tiny, bristly, hair-like structures that dot cell surfaces, have gone from relative obscurity to a position of importance for understanding multiple complex human diseases now collectively known as ciliopathies. These diseases, which are caused by abnormal or absent cilia, are now known to be at the root of a number of genetic disorders, from polycystic kidney disease to some forms of retinal degeneration.

A news article about ciliopathies published in Scientific American explains how research by George B. Witman, PhD, professor of cell & developmental biology and Gregory J. Pazour, PhD, professor of molecular medicine, led to the discovery that cilia dysfunction causes polycystic kidney disease (PKD), which affects about 12.5 million people worldwide.

From the initial discovery, numerous other links between cilia dysfunction and disease have been made. Commonly known motile cilia beat back and forth outside the cell and help regulate fluid flow. It turns out most human cells also have at least one primary or nonmotile cilium that functions more like a molecular antenna. This cilium is what detects and conveys important messages to its cell about the local environment.

“The signaling machinery is concentrated in the cilia,” Dr. Witman said. “All in this very tightly controlled constrained space.”

When cilia don’t form properly the resulting miscommunication can disrupt organ formation during development and lead to congenital disease.

Witman, who authored a separate review article published by BioScience in December, said the future may include cilia-based gene therapies that could potentially treat diseases such as retinal degeneration before it causes blindness.