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Clearing the Way: An update on PCD research

by Lynn Ehrne | Mar 10, 2022 | Diagnosis, EDUCATION, RESEARCH

The PCD Foundation hosted a live webinar entitled:Clearing the Way: an update on PCD research,presented by Michele Manion, PCD Foundation Executive Director.PCD research is moving full-speed ahead!  Learn more about what we have learned so far, what still needs to...

Webinar: How common are PCD genetic variants in the general population?

by Lynn Ehrne | Mar 2, 2022 | Diagnosis, EDUCATION, RESEARCH

PCD Foundation hosted a live webinar entitled:How common are PCD genetic variants in the general population?,presented by William Hannah, MD and Benjamin Gaston, MD.  The presentation will focus on the paper, ‘The global prevalence and ethnic heterogeneity of...
PCD Foundation joins Chan Zuckerberg Initiative’s Rare As One Network

PCD Foundation joins Chan Zuckerberg Initiative’s Rare As One Network

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...

PCD Diagnosis in 2019: Where We Are Now & Where We Are Going

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...

PCDF Research Forum #7: Rapid Advances in PCD Research

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research being done with PCD, it is important for pulmonologists to be aware of the latest findings so as not to use outdated methods for diagnosing and treating PCD.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...

PCDF Research Forum #6: Genotype/Phenotype Relationships in PCD

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...
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