by Lynn Ehrne | Nov 4, 2021 | Advocacy, Diagnosis
Dear PCD Foundation Friends and Family,We are thrilled to announce the PCD Foundation is one of 40 patient-led, rare disease organizations receiving a grant through the Chan Zuckerberg Initiative (CZI)’s Rare As One (RAO) Project. RAO is aimed at supporting and...
by Michele Manion | Nov 26, 2019 | Diagnosis, EDUCATION, Genetics
The first thing to know is that there is currently no test for PCD that picks up 100% of cases or that can totally rule PCD out. The second thing to be aware of is that diagnostic practices for PCD vary by country and sometimes even by region within a country. A...
by Billy Anton | Mar 21, 2019 | Diagnosis, EDUCATION, Genetic Testing, Genetics, RESEARCH, Uncategorized
With all the research being done with PCD, it is important for pulmonologists to be aware of the latest findings so as not to use outdated methods for diagnosing and treating PCD. “Rapid Advances in Primary Ciliary Dyskinesia Research: A Brief Update for...
by Billy Anton | Feb 25, 2019 | Diagnosis, EDUCATION, Genetics, RESEARCH
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype Stephanie D. Davis et al. Link to study abstract Understanding and identifying the relationship between genotype (gene mutation) and phenotype (observable clinical...
by Lynn Ehrne | Jun 28, 2018 | Diagnosis
Using rigorous evidence-based analysis, this document provides an overview of available information related to best practices for diagnosing PCD and addresses some of the challenges and misinformation currently confronting clinicians and patients in their PCD...
by Michele Manion | Oct 23, 2017 | Diagnosis, Genetic Testing, Genetics
PCD diagnosis continues to be challenging. All current testing options available to aid in PCD diagnosis (biopsy with TEM, nasal nitric oxide measurement, high-speed videomicroscopy, immunofluorescent assay of ciliary proteins) have limitations and do not work in all...
