Ciliary Disease News and Research

RSS

Research outlines how cilia disease gene products regulate early cilium formation

An international collaboration jointly led by University College Dublin, University of Alabama and Simon Fraser University, British Columbia has outlined in the Journal of Cell Biology how cilia disease gene products regulate important aspects of early cilium formation and the integrity of the ciliary transport gate.

21 Mar 2011

Researchers discover new gene for Sensenbrenner syndrome

Dutch researchers of the Radboud University Medical Center in Nijmegen found a new gene for Sensenbrenner syndrome (Journal of Medical Genetics, 2011 Mar 4). The mutation adds support to the hypothesis that defects in ciliar transport are the cause of the disease. Project leader Dr. Heleen H. Arts is supported by a Kolff Junior Postdoc Grant of the Dutch Kidney Foundation.

14 Mar 2011

In retinal disease, sight may depend on second sites

If two people have the same genetic disease, why would one person go blind in childhood but the other later in life or not at all? For a group of genetic diseases - so-called ciliary diseases that include Bardet-Biedl syndrome, Meckel-Gruber syndrome, and Joubert syndrome - the answer lies in one gene that is already linked to two of these diseases and also seems to increase the risk of progressive blindness in patients with other ciliary diseases. The findings are published online this week at Nature Genetics.

12 May 2009