Billy Anton is a business professional and vice chair of the PCD Foundation Board of Directors. He is also diagnosed with primary ciliary dyskinesia (PCD), an inherited condition in which mucociliary clearance of the lungs is impaired, causing recurrent infections that may lead to hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi). Here, Billy shares his journey with PCD, from early diagnosis to getting involved in research and patient advocacy.
BreAnna Kinghorn, MD, MS, is an assistant professor in pediatric pulmonary and sleep medicine at Seattle Children's Hospital and the University of Washington School of Medicine. She is also a member of the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). Dr. Kinghorn’s research focuses on improving outcomes for children with primary ciliary dyskinesia (PCD). Here, she shares her start in rare disease research, exciting discoveries, and future goals.
The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) is a network of experts working together to better understand rare and genetic conditions leading to impairments in lung defenses and suppurative respiratory disorders, including primary ciliary dyskinesia, cystic fibrosis, primary immunodeficiencies, and idiopathic bronchiectasis. Here, principal investigators Stephanie Davis, MD, and Thomas Ferkol, MD, share the history of the consortium, current research, and future plans.
A new gene is linked to primary ciliary dyskinesia (PCD), a rare disease that affects the airways. Using whole exome sequencing and bioinformatic analysis, researchers from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) identified a variant in the CFAP57 gene that causes PCD, as published in the journal PLOS Genetics.
