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

Wednesday, March 2, 2016 - 18:50 in Biology & Nature

GEMC1 is required for the generation of multiciliated cells. Images of mouse tracheas. 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".

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