Primary ciliary dyskinesia (PCD) is a rare genetic disorder of mucociliary clearance characterized by recurrent infections of the airways, sinuses and ears and progressive structural lung disease. PCD is challenging to diagnose, and disease progression is highly variable.
Under the leadership of investigators Margaret Rosenfeld, MD, MPH, and BreAnna Kinghorn, MD, MS, the Primary Ciliary Dyskinesia Research Program aims to improve the diagnosis of PCD, delineate genotype-phenotype associations, understand risk factors for disease progression and develop endpoints for clinical trials in people with PCD.”
The research program has been one of eight sites in the NIH-funded Genetic Disorders of Mucociliary Consortium (GDMCC) since its inception in 2006. GDMCC research has significantly advanced our understanding of PCD diagnosis and care. The team also works closely with the PCD Foundation.
Featured Research
Meet the Team
Margaret Rosenfeld, MD, MPH
Margaret Rosenfeld, MD, MPH, is attending physician at Seattle Children's Hospital, Professor in the Department of Pediatrics at the University of Washington School of Medicine and Adjunct Professor in the Department of Epidemiology at the University of Washington School of Public Health. She is Associate Vice Chair for Clinical Research in the Department of Pediatrics and Co-Director of the Center for Clinical and Translational Research at the Seattle Children's Research Institute.
Her clinical interests focus on the diagnosis and management of respiratory illnesses in children of all ages, working closely with families. She serves as CF consultant to the Washington State Newborn Screening Program. Her research program focuses on NIH and foundation-sponsored multicenter observational and interventional studies in pediatric chronic lung diseases, including cystic fibrosis and primary ciliary dyskinesia. She also conducts research on mobile health tools for respiratory diseases including home spirometry.
Mey Lee, BS
Clinical Research Coordinator I
Sharon McNamara, MN
Research Nurse Manager
Marissa Nelsen, BS
Clinical Research Coordinator II