Discoveries Offer Hope for Patients With PCD

Sharon Dell, MD

Sharon Dell, MD

Until recently, primary ciliary dyskinesia (PCD) has received little attention or research funding.

“As a result, delayed diagnosis is the rule, even though signs and symptoms of the disease are usually present right from birth,” says Sharon Dell, MD.

An inherited disease, PCD causes impairment of mucociliary clearance. This impairment results in progressive bronchiectasis that may cause end-stage lung disease by adulthood. Dr. Dell is co-chair of a symposium that will highlight new insights into the mechanisms of ciliary assembly defects in PCD, which have come from animal model and human gene discovery studies, and clinical trials that are being conducted around the world.

The symposium, “The Link Between Ciliary Assembly Defects, Neonatal Respiratory Distress, and Bronchiectasis in Adulthood: A Primer on Primary Ciliary Dyskinesia,” will be presented from 9 to 11 a.m. on Tuesday in the Moscone Center, Room 3007/3009 (West Building, Level 3).

“Multicenter, collaborative research over the past decade has resulted in fascinating scientific discovery, diagnostic improvements, and the start of novel clinical trials for this rare disease. These discoveries provide the potential for a paradigm shift in health outcomes in PCD,” says Dr. Dell, staff physician and senior associate scientist at the Hospital for Sick Children, and associate professor of pediatrics, Institute of Health Policy Management and Evaluation, at the University of Toronto, Ontario, Canada.

The symposium will highlight phenotype-genotype relationships in children and adults, emerging genetic testing, new diagnostic tests, airway microbiology, inflammation in PCD, and the impact of disease management strategies on long-term prognosis.

“This scientific symposium comes at an opportune time of scientific discovery,” Dr. Dell says. “There is something for everyone to learn, from the neonatal to the adult clinician and from the basic scientist to the epidemiologist.”

The program will begin with two young women who will share their experiences about living with PCD and overcoming many of the misunderstandings and devastating health outcomes associated with the disease.

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