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Many thanks from Share & Care families to The Luke O'Brien Foundation for sponsoring our Annual International Family Conference for Cockayne Syndrome. 

 

 

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Volunteer CS Blood Donors Sought for Novel Study of the Causes of CS

Dear Parents,

We have obtained funding from the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH) for what we believe to be a completely novel study of the causes of CS.

Although many prominent research groups have worked on CS for many years, there is still no convincing evidencefor the common assumption that CS is caused by a defect in DNA repair. In fact, it is quite possible that CS and the observed DNA repair defect are both consequences of some more fundamental (but as yet undiscovered)
biochemical defect.

The goal of our study is to identify this fundamental defect because it might enable us to devise better treatments for managing the symptoms of CS or slowing the progression of CS disease.

To identify this defect, we need to collect and carefully analyze about a teaspoonful of blood from CS individuals ranging from infants to children, teenagers, and adults. The infants and youngest children may be especially informative if, as we suspect, many symptoms of CS are the delayed consequences of earlier cellular damage.

With the approval of the Share and Care Network, I attended the August 2013 meeting in Alexandria, Virginia. On the first night, I made a brief presentation of our research project and answered questions. Then, after lunch on the second day, we conducted a blood draw on site at the Embassy Suites with the help of a visiting phlebotomist. The draw was a success, with 7 CS children in the eligible age group participating.

We have now obtained approval from the University of Washington (UW) Institutional Review Board (IRB) to draw blood samples from CS individuals who are older than 1 month and weigh more than 8 pounds. If you allow your child or young adult to participate, we can arrange for a blood draw at your convenience in or near your home town.

Although we'll be using specialized barcoded tubes for this research, the actual blood draw procedure will be like any other, and we’ll make it as quick and comfortable as possible.

We will then perform automated biochemical analysis to compare the components of CS blood (RNAs and proteins) with those of normal children and young adults. Such biochemical comparisons have never before been done using automated state-of-the-art analytical techniques, and any differences that we find between CS and normal participants could provide novel clues regarding the causes and course of CS. We have already made arrangementswith Seattle Children's Hospital to draw blood from normal children and young adults living in the greater Seattle area.

Our federal research grant from the NIH will pay for the expensive automated biochemical tests. There will be no cost for you, your insurance, or your physician.

If you are interested in volunteering or are just starting to think about it, please call my cell phone (206-851-4426) or email me (amweiner@uw.edu) and I will try to field any questions you may have. I can also put you in touch with Martha Horike-Pyne (mjpyne@uw.edu, 206-221-0971), our experienced Research Coordinator here at the Northwest Institute of Genetic Medicine, who has years of practice answering questions for parents and children of all ages who are considering joining a research project. We can discuss the required consent and assent forms, and also the medical record release form that enables us to ask your family physician for relevant information regarding your child or young adult’s medical history. Above all, we promise to respect and maintain your privacy, and any published research data will be strictly anonymous so that no one can identify your child or your family.

I look forward to hearing from as many of you as possible!

Many thanks,
Alan


Alan Weiner, Ph.D.
Professor of Biochemistry
School of Medicine
University of Washington
Seattle WA 98195-7350
(206) 851-4426 cell
amweiner@uw.edu

  
Please see recent Associated Press news coverage our 14th International Family Conference for Cockayne Syndrome held August 2013 Conference in Alexandria, VA:
 
 
 
There are over 7,000 rare diseases ... 50% of them affect children ... a third of those children won't live past the age of 5. Out of the 7,000 diseases only 400 of them have treatments. You can help make it 401, please donate on our home page  Using our online form is fast, easy and secure. Your gift will make a difference in the lives of people living with Cockayne syndrome and support research to find treatments, care and prevention.
Donations are tax-deductible.
Donate by mail:
Send a check to:
                                                                             
Cockayne Syndrome Network
PO Box 282
Waterford, VA 20197
 
 
Donate online:
To make a secure online donation through our partner Network for Good:  Please click on the "Donate Now" button on the left hand column of this page.
 
Share & Care is an ALL VOLUNTEER organization there are no paid salaries, donations go directly to helping families with kids with CS and to research for CS. We are a 501(c)3 Not-for-Profit Organization. Your donations are fully tax deductible and greatly appreciated! :) 
 
We do need more volunteers to help us with our organization.  If you have professional skills you could offer to do some consulting for us.   If you would like to have a fundraiser we can help you organize one.  We are currently in the process of building a new website but we need help creating new content and organizing it, please let us know if you can help.  We are also having our next Scientific Meeting for translational research, as well as our Family Conference which will be held together next July in Salt Lake City Utah.  If you have connections in any way there, we'd love to hear from you.
 
On behalf of Share & Care Families, "Thank you for your support!"
 
For more information on CS click on the "About CS" tab on the left of this page to read and download our brochure. 
 
More news links on August conference:

http://video.ap.org/Rare-Disease-Prematurely-Ages-Children-24996171

http://bigstory.ap.org/article/kids-rare-premature-aging-disease-meet-va
http://www.startribune.com/lifestyle/health/218370571.html
http://abcnews.go.com/US/wireStory/kids-rare-premature-aging-disease-meet-va-19871508
http://www.dailymail.co.uk/news/article-2385082/Coping-prematurely-aged-children-Families-Cockayne-Syndrome-kids-come-together.html

September 19, 2014