Scientists pinpoint molecular cause for severe disorder in children

Posted on Monday, January 4, 2021

After three years of research, Dr. Damien D’Amours and his team at the Ottawa Institute of Systems Biology have discovered the molecular defects associated with LIC Syndrome, a serious genetic disorder that affects young children and results in acute respiratory distress, immune deficiency and abnormal chromosomes. This research represents one of the most important milestones in developing treatments to improve the lives of LIC syndrome patients. 

Onset of symptoms occurs in the first few months after birth in infants suffering from Lung disease Immunodeficiency and Chromosome breakage (LIC). Typically, patients experience failure to thrive and immune deficiency, which can eventually progress to fatal pediatric pulmonary disease in early childhood. The disease is caused by small inactivating mutations in NSMCE3, a gene encoding an essential factor found in the nucleus of human cells.

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