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PCD Blog
North American PCD Registry Now Accepting Entries
Escrito por Michele Manion    Jueves 01 de Mayo de 2014 20:44    PDF Imprimir Correo electrónico

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Here is Your Link to the PCD Community! 

The North American PCD Registry (NAPCDR) is now open for entries! Click here to add your voice to growing community of PCD patients, caregivers and experts working to make a difference for people with PCD.


We encourage electronic entry, but if you require a hard copy of the registry form, please contact the PCD Foundation at: 

NAPCDR
C/O PCD Foundation
10137 Portland Avenue South
Minneapolis, Minnesota 55420

And remember, ALL COMPLETED ENTRIES RECEIVED BY MAY 10, 2014 WILL AUTOMATICALLY BE ELIGIBLE FOR A DRAWING TO WIN AN APPLE iPAD OR ONE OF FIVE RED BOX MOVIE GIFT CARDS.

We are very excited about this milestone for the PCD community and look forward to the participation of our expanding PCD family!





 
Dr. Knowles Interviewed about Rare Diseases
Escrito por Michele Manion    Martes 07 de Mayo de 2013 07:14    PDF Imprimir Correo electrónico

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This is a very nice overview of history of accelerated interested in rare disease research.  Dr. Michael Knowles from UNC is quoted in reference to his role with the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC, aka 'PCD study'):

 

 
Ciliary Ultrastructure: What Your Doctor Sees
Escrito por Michele Manion    Miércoles 03 de Abril de 2013 10:36    PDF Imprimir Correo electrónico

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Here are examples of ciliary ultrastructure analyzed from the biopsy samples taken to diagnose PCD.  To get these views, the cilia (which are microscopic) need to be sliced for cross-section. Cilia are long and thin (think blade of grass). The cross-section view would be like looking down at the inside of the grass blade after it's been cut.  

 

To enable cross-section slicing, the sample is preserved in a wax-like substance that hardens and tiny slices are prepared for analysis under the electron microscope. This microscope is orders of magnitude more sensitive than a regular microscope, but can still only magnify items that are 'electron dense.' We now know that certain defects (for instance, DNAH11 outer dynein arm defects) appear not to be electron dense, so they don't show up on biopsy.  We don't know how many other PCD genetic mutations may fall into this category, though, which is why the biopsy alone is not sufficient for ruling PCD out. Having a 'normal' biopsy does not necessarily mean you don't have PCD--just that you don't have PCD caused by a defect that shows up on biopsy. 

To give you an idea of the challenges faced by pathologists and doctors trying to analyze these biopsies, here is a slide showing normal ultrastructure (bottom left) and PCD with absence of dynein arms (bottom right). These slides represent the 'perfect world' of biopsy samples. They are clear, the defect is obvious and, if the defect was seen in many cilia, it would not be hard to make the call for PCD caused by absence of dynein arms. You will need to click on the link, as I could not figure out how to get the picture uploaded directly to this site:

 

Ciliary Ultrastructure: Normal and PCD

 

And here are four examples of what pathologists see in the 'real world.' 

 

Ciliary Ultrastructure: Abnormal

 

As you can see, what pathologists normally get to work with is far from ideal. The images are blurry and while these are  very defective looking cilia, the defects tend to be inconsistent within the same sample. The important point is that these ciliary samples all came from people without PCD. They represent a small sample of the temporary ciliary defects that can occur from having a respiratory infection or from exposure to an environment toxin. You can see why diagnosis of PCD via biopsy tends to be as much art as science at times. 

 

 

 
BESTCilia:European PCD Grant Kicks into High Gear!
Escrito por Michele Manion    Lunes 11 de Marzo de 2013 11:02    PDF Imprimir Correo electrónico

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The European Union is funding the Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia (‘BESTCilia’) initiative, an international collaboration aimed at creating standards for diagnosis and care that can be implemented across Europe and shared with collaborators in other countries.

This initiative is headed by Dr. Heymut Omran from Muenster, Germany and includes partners from across Europe, the UK and North America, including experts from the UK, the US, Denmark, the Netherlands, Cyprus, Greece, Poland and Switzerland .  Dr. Margaret Leigh, a PCD expert from the University of North Carolina, Chapel Hill, is representing US interests.   Additionally, patient advocacy groups, including the US PCD Foundation and groups from the UK, Germany and Switzerland are active participants in this grant initiative and provide input from the patient perspective related to needs and priorities of the international PCD patient community.

On March 1 and 2nd, Michele Manion from the US PCD Foundation attended the inaugural ‘Kick-off’ Meeting for the BESTCilia group in Limassol, Cyprus.  The BESTCilia grant is divided into seven ‘work packages,’ each with specific aims related to the broad goal of improving screening and treatment for PCD.  The PCDF is participating in three packages:

1. International PCD patient registry (development and implementation)

2. Health-related quality of life tool (development and validation)

3. Dissemination of information related to BESTcilia activities

Other work packages include an ambitious effort to collect and organize anonymous data already captured at PCD centers around the world and to launch the first-ever clinical trial of a drug (azithromycin) in PCD!

It is exciting to see the goals of individual groups coalesce in an international effort on behalf of PCD.  Given that each country has a relatively small patient population, the only way we can have the numbers needed to effectively power future clinical trials is to cooperate and we are fortunate in having such fantastic international partners as we move PCD science forward!

 

For more information: 

http://cordis.europa.eu/search/index.cfm?fuseaction=proj.document&PJ_RCN=13426904

 
Celebrate Rare Disease Day 2013!
Escrito por Michele Manion    Viernes 30 de Noviembre de 2012 08:49    PDF Imprimir Correo electrónico

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In preparation for International Rare Disease Day, February 28, 2013, NORD has provided helpful resources to aid individuals with rare diseases to effectively share their stories and engage their local communities in this important event.  

 

Here is a link to materials for sharing your story.

 

And here is a link to information about how to engage elected officials from your state in supporting the rare disease community.

 

 


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