Index

Disclaimer: Medicine is a constantly changing science and not all treatments are clearly established especially with such a rare disease. New research changes drug and treatment therapies daily. The authors, editors, and publisher of this website have used their best efforts to provide information that is up-to-date and accurate and is generally accepted within medical standards at the time of publication. However, as medical science is constantly changing and human error is always possible, the authors, editors, and publisher or any other party involved with the publication of this article do not warrant the information in this article is accurate or complete, nor are they responsible for omissions or errors in the article or for the results of using this information. They are also not responsible for any of the statements made by individuals posting their own stories or experiences on this site.

Welcome to the website of the Dyskeratosis Congenita Outreach Network. We consider ourselves to be constantly changing and evolving because as new information becomes available we hope to be able to post it. Our network and website are designed to provide a source of information, support, and hope for families affected by DC. In addition to basic facts about the disorder, we are trying to offer a place where families can register for a national database, discover new contacts in the medical community and share personal experiences with others facing similar challenges. We also hope to supply up to date news about potential breakthroughs in research and treatment of DC.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

October 5, 2009

Stockholm, Sweden -- Exciting news everyone! The Nobel Prize for Medicine has gone to three scientists whose work focused on telomere biology, a realm of science at the heart of recent research into Dyskeratosis Congenita (DC). As many of us know, recent work at the National Institutes of Health has led to the recognition that DC is a disorder of telomere biology. While the awarding of a Nobel may not mean a "cure" for DC is just around the corner, we at DC Outreach are glad to see research in this important field elevated to international prominence with this important recognition.

Here's the news, as described by the Nobel committee in an Oct. 5, 2009 press release:

http://nobelprize.org/nobel_prizes/medicine/laureates/2009/press.html

Telomeres are structures on the ends of chromosomes that protect the strands of DNA, much like the plastic aglets that protect the ends of your shoelaces. Telomeres shorten naturally in everyone as they age. However, persons with DC have telomeres that are much shorter than expected for their age. While the research is ongoing, scientists over the years have found that DC is caused by a mutation in one of six genes important in telomere biology However only about one-half of patients with DC have an identifiable mutation in one of these genes. Ongoing research aims to discover more DC-associated gene mutations, and to learn how telomere genes contribute to cancer development and aging.

Board Members elected for 2012

At our Dec. meeting the DC Outreach board voted in the following board members. The executive board members serve for two year terms and the directors for one year terms. All board members who were returning were re-elected. Because the board lost a couple of key members we had to amend our by-laws to state that we are a board of 7 for the 2012 fiscal year. We are very sorry to say goodbye to Julie Clark, Rose-Galeano Phillips and to Paige Stauffer. They have all served DCO extremely faithfully and I hope we will see them all at Camp Sunshine in Sept. 2012. I cannot thank them enough for all the time and heart they have given to this organization.

Nancy Cornelius, President

Joe Carlson, Recording Secretary

Dave Phillips, Treasurer

Directors:

Elizabeth Cook, MD

Jen Cornelius

Mari Fearon

Robin Huiras

The board meetings for 2011 are scheduled for 6pm PST, 9pm EST on the following dates: June 10, July 15, Aug. 12, Sept. 9, Oct. 14, Nov. 11, Dec. 2 and Jan. 13, 2013. If any of you would ever like to sit in on one of our meetings you may do so. Please contact one of us to find out how. Go to the Contact Us page to find out with whom to get in touch for more information.

Next Live Chat Forum Sunday, June 10th, 8:00pm EST

The DC Outreach board has now hosted quite a few on-line chat group sessions. We will continue to offer these as long as we have interested people who want to partake in these sessions. Every other month we are joined by one of our medical advisors. These five doctors who make up our medical advisory board alternate sitting in on our chats and each offer a very different perspective and bring something new to the chat sessions. In addtion, they give you an opportunity to ask them questions in an informal setting. We are very proud of our medical advisors and of how "above and beyond" the call of duty they are willing to go to help our families.

We are not being joined by one of our medical advisors at this chat but we may be discussing Camp Sunshine for any of you who have questions about it.

Our next chat group is scheduled for June 10th at 5:00 pm west coast time or 8:00pm, east coast time. We are limiting the sessions to 45 minutes. If you would like to join us, please send Nancy (snaca6@aol.com) your Skype number so you can be called into the group or your phone number so you can be phoned in. After you send Nancy your Skype name she will write back to you and you will have to accept her as a contact on Skype. (Skype is a free program and it works really well. You can go to www.skype.com to download this program and you use it with your computer and a microphone)

You do need to let Nancy know at least a few minutes in advance of the Chat that you want to join. It is much more difficult to have you join the conversation once it has started. Even if you have been part of the chat in previous months, please let us know if you want to join again. We really do not want to take it for granted that you want to be called in even if you are on Skype at the specified time.