Meckel Syndrome News and Research

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NEI researchers describe functions of gene responsible for anchoring cilia

Researchers at the National Eye Institute (NEI) have described the functions of a gene responsible for anchoring cilia - sensory hair-like extensions present on almost every cell of the body.

2 Jul 2014

Researchers discover how genetic mutations cause rare human diseases

Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.

11 Jul 2011

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

Cilia research may help find cure for inherited eye diseases

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases.

23 Jun 2007