Bi-Allelic NOTCH3 Variants May Cause Early-Onset Vascular Leukoencephalopathy and More: RDCRN Research Roundup Dakota Campbell Tue, 05/03/2022 - 11:10
Scientists using microscopes in the laboratory

New research: Bi-allelic NOTCH3 variants may cause early-onset vascular leukoencephalopathy; Review discusses sphingolipids in kidney diseases; Chest x-rays alone may not detect organ laterality defects in primary ciliary dyskinesia 

Patient Spotlight: Billy Anton Balances Management and Lifestyle with Primary Ciliary Dyskinesia Dakota Campbell Tue, 03/29/2022 - 10:02
Headshot of Billy Anton

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.

Early Stage Investigator Spotlight: BreAnna Kinghorn Improves Outcomes for Children with Primary Ciliary Dyskinesia Dakota Campbell Tue, 03/22/2022 - 11:59
Headshot of BreAnna Kinghorn, MD, MS

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. 

Consortium Spotlight: Advancing Discoveries in Mucociliary Clearance Diseases Dakota Campbell Fri, 03/11/2022 - 14:52
Genetic Disorders of Mucociliary Clearance Consortium logo

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. 

Researchers Discover New Gene Causing Primary Ciliary Dyskinesia Dakota Campbell Wed, 09/16/2020 - 15:07
Expression and localization of CFAP57 in human airway epithelial cells
Expression and localization of CFAP57 in human airway epithelial cells. © 2020 Bustamante-Marin et al. This is an open access article distributed under the terms of the Creative Commons Attribution License.

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.