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Discovery of a gene associated with a set of poorly understood rare diseases

IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells – cells with fine filaments that move fluids and substances – which are found exclusively in the brain, respiratory tract, and reproductive system.

Defects in multiciliated cells lead to ciliopathies – rare and complex diseases that are poorly understood and for which not all causative genes have been identified.

The genomic sequencing of hundreds of patients with diverse types of ciliopathies has revealed that “in many cases the gene responsible is not known”, says Travis Stracker, head of the Genomic Instability and Cancer Lab at the IRB Barcelona. “So many people do not have a molecular diagnosis,” stresses the researcher. “Our work seeks to contribute to bridging this knowledge gap”.

Images of mouse tracheas
GEMC1 is required for the generation of multiciliated cells. Images of mouse tracheas. The cilia (yellow) are clearly evident in the wild-type mice and absent in mice with no GEMC1
Image Credit: Berta Terré, IRB Barcelona