Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) focuses on several inherited and acquired disorders that cause thickened, infected secretions to accumulate in the upper and lower airways. Its work is conducted at eight clinical research sites across the United States and Canada. 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 goals of this multidisciplinary effort are 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 Division of Rare Diseases Research Innovation (DRDRI). GDMCC is funded under grant number U54HL096458 as a collaboration between NCATS and the National Heart, Lung, and Blood Institute (NHLBI). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). Funding support for the DMCC is provided by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).