Primary Ciliary Dyskinesia Week

HomePatientsLung Disease Week at the ATS2016 ▶ Primary Ciliary Dyskinesia Week
Primary Ciliary Dyskinesia Week

PCD Week

Welcome Message

It is my pleasure to introduce the "rare" lung disease, primary ciliary dyskinesia, the focus of this installment of "Lung Disease Week at the ATS." 

Motile cilia are tiny, beating, hair-like structures on the airway surface that sweep fluids, mucus, and inhaled particulates from the nasopharynx, middle ear, paranasal sinuses, and lower airways. Primary ciliary dyskinesia is an inherited disorder characterized by impaired ciliary function leading to diverse clinical manifestations, including chronic sinopulmonary disease, persistent otitis media, laterality defects, and infertility.  It is estimated that as many as 25,000 Americans and 400,000 people worldwide suffer from primary ciliary dyskinesia, but these values likely underestimate its incidence in the general population. Although primary ciliary dyskinesia is considered a rare lung disease, its prevalence in children with repeated respiratory infections has been estimated to be as high as 5%.

Our understanding of the epidemiology, genetics, pathophysiology, and clinical manifestations of primary ciliary dyskinesia has rapidly advanced since the disease was linked to ultrastructural defects of the ciliary axoneme more than four decades ago.  The Lung Disease Week allows us to share recent advances in cilia genetics and biology that have provided new insights into genotype-phenotype relationships and may yield therapeutic targets to restore ciliary function.

The Primary Ciliary Dyskinesia (PCD) Foundation (www.pcdfoundation.org) was established nearly 15 years ago, and supports research, education, and clinical care of children and adults with inherited ciliopathies.  A member of the ATS Public Advisory Roundtable, the Foundation has advocated for greater federal and local support for research, education, and development of new resources to aid children and their families.

We welcome "Primary Ciliary Dyskinesia at the ATS" in this awareness campaign, and look forward to sharing information that will help guide families, advance research, and support clinicians in their efforts to treat this disease.

 

Thomas W. Ferkol Jr, MD 

Thomas W. Ferkol Jr, MD  
Alexis Hartmann Professor
Division of Pediatric Allergy, Immunology and Pulmonary Medicine
Director, Division of Pediatric Allergy, Immunology and Pulmonary Medicine
ATS Past President

Michele Manion

Michele Manion
Founder and Executive Director, PCD Foundation
Member, ATS Public Advisory Roundtable

 

ATS Primary Ciliary Dyskinesia Partner
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The Primary Ciliary Dyskinesia Foundation is a not-for-profit 501(c)(3) patient advocacy foundation for individuals with inherited ciliary disorders and their caregivers. Our Mission: As a patient-focused organization, our mission is to provide the leadership and resources needed to support increased research, accelerated diagnosis, improved health and, ultimately, a cure for primary ciliary dyskinesia.