Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

Consisting of eight clinical research sites across North America, the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) has focused on several inherited and acquired disorders that lead to respiratory diseases that produce thick discharges from infected tissues. During the past 15 years, the consortium has made numerous advances that profoundly changed clinical practice, particularly in primary ciliary dyskinesia, a rare disease characterized by chronic sinopulmonary infections, middle ear involvement, laterality defects, and infertility. Novel insights into the genetics of primary ciliary dyskinesia have allowed consortium investigators to define clinical features, revolutionize diagnostics, and uncover genotype-phenotype relationships. Recently, the consortium has expanded its focus to include primary immunodeficiencies, a heterogeneous group of disorders that often share clinical features with primary ciliary dyskinesia. The overarching goal of this multidisciplinary effort is to define the genetic bases, pathophysiology and clinical manifestations; expand diagnostic capabilities, and identify therapeutic targets and trial endpoints in these rare, chronic respiratory diseases, ultimately improving outcomes for affected individuals.

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). GDMCC is funded under grant number U54HL096458 as a collaboration between NCATS and the National Heart, Lung, and Blood Institute (NHLBI).