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 Issue: # 41
August 2014 
In This Issue

A Mom With a Song in Her Heart 

The Roger Family
 

Here's the Challenge!!!
Please help make it successful!!!
 

One DBA mom was inspired by the ALS Ice Bucket Challenge and wanted to do something for DBA. Katie Roger of Massachusetts started the #LyricsforLiam Campaign in honor of her 2 year old son, Liam, and it is gaining momentum! Her efforts are raising awareness and DBA research dollars! Please check it out and get involved! There's more information about Liam's challenge at  http://lyricsforliam.weebly.com/

Working together, DBA families created the #singawayDBA 
Challenge. Start singing and pass it on! Challenge your friends to sing a song and donate! 


Your video intro could be something like this: "I am taking the #singawayDBA Challenge in honor of a very special person who has Diamond Blackfan Anemia. DBA is a very rare bone marrow failure disorder that desperately needs research dollars and DBA families are determined to raise the necessary funds. I challenge Name, Name, and Name to sing a few lines of a song, make a donation at dbafoundation.org and challenge 3 more friends to do the same. Use #singawayDBA in your post and with your donation."
You can make it as personal or generic as you are comfortable doing!

Please help us spread our DBA message! Audrey started us off on our Facebook page and the Facebook post has over 23,000 views.  The video was just uploaded to YouTube. Take it away, Audrey!  (Click to view an adorable rendition of a favorite song!)
Audrey's #singawaydba challenge
Audrey's #singawaydba challenge
 
Upcoming Events

Friends of DBA Golf Outing  September 15, 2014

Fox Meadow Golf Club
Medina, OH 
Contact: 
Jim & Carol Mancuso 
c-mancuso@sbcglobal.net


 

Friends of DBA 5K / 1 mile Walk 
October 4, 2014
Fox Meadow Golf Club
Medina, OH 
Contact: 
Jim & Carol Mancuso 
c-mancuso@sbcglobal.net

Ongoing Fundraisers
Family Letter Writing Campaign  
Pre-printed letters and envelopes have been created for you to send to your contacts! Call or email for more information.
Contact: 
Dawn Baumgardner
dbaumgardner@dbafoundation.org
716.674.2818  
  

 

Wristbands Available 
Contact:  
Twila Edwards  
twilak@cox.net
 
 
 

 

 

 

 

Tribute Cards Available
(3 Styles)
In honor of...
In memory of...
Holiday giving...
Contact:
Dawn Baumgardner
dbaumgardner@dbafoundation.org 
716.674.2818
  donation donation
 
 
5" x 5" Decals Available
Contact:  
Dawn Baumgardner  
dbaumgardner@dbafoundation.org 
716.674.2818
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7" x 5" Decals Available
Contact:  
David Voltz  
dcvol@yahoo.com
Cure DBA decal_Voltz.  
 
Cookbooks Available  
Contact:
Betty Lightner  
betty.lightner@gmail.com  
To order online, visit:
cookbook cover  

 

AmazonSmile Program
You Shop... Amazon Gives!
If you shop on Amazon, please log in using smile.amazon.com, select Diamond Blackfan Anemia Foundation as your charity, and shop as usual. Amazon will donate .05% of your purchase to the DBAF.
 
 
 
Good Search/Good Shop  
Raise money for DBAF 
just by searching the web and shopping online!   
  

 

Quick Links
The Diamond Blackfan Anemia Foundation (DBAF) is committed to keeping you updated and connected to the entire DBA community. The DBA Foundation is YOUR Foundation!  We encourage you to share your ideas, photos, and stories for our website and upcoming newsletters.  Contact us at DBAFoundation@juno.com.
Thank you Supporters and Dr. Bodine!

The Diamond Blackfan Anemia Foundation (DBAF)  is grateful to our families, friends and supporters that allow us to continue to fund DBA research projects. In April, the DBAF provided gap funding for Dr. Harvey Lodish's project entitled, "High-throughput screening identifies many novel potential therapies for Diamond Blackfan Anemia." In May, the DBAF funded Dr. Daniel Finley's project entitled, "A new mode of ribosome regulation specific to reticulocytes." In June, Dr. Vijay Sankaran was awarded a grant for his project, "Defining GATA1 Transcriptional Alterations in Diamond Blackfan Anemia." In July, the DBAF awarded an additional $95,000 to Dr. Harvey Lodish. This month the DBAF is proud to announce the funding of another project.

 
The DBAF, in partnership with DBA Canada, is proud to provide a $25,000 grant to Dr. David Bodine for his project, "Assay Development and Preliminary Screening of Small Molecules to Increase Ribosomal Protein Levels."

 
David Bodine, PhD, Senior Investigator and Chief, Genetics and Molecular Biology Branch Head, Hematopoiesis Section of the National Human Genome Research Institute explained, "The vast majority of DBA patients are heterozygous for mutations in a ribosomal protein gene. That means that they have one mutated gene that usually does not make any protein, and one normal gene that makes perfectly good ribosomal protein mRNA that is translated into ribosomal protein. We asked: 'Why can't the healthy ribosomal protein gene make up for the loss of the mutated gene's output?' After all, in many other diseases, like sickle cell disease and cystic fibrosis, heterozygous people are quite normal and healthy.

 
The answer is that the beginning of ribosomal protein RNAs have a special sequence that controls their translation. We have designed a cell line that uses the beginning of a ribosomal protein mRNA attached to an easy-to-use reporter gene. We are collaborating with the National Center for Accelerating Therapeutics (NCATS) to use our reporter cell line to test hundreds of thousands of potential drugs to see which ones can increase the translation of ribosomal protein mRNA.

 
So far, we have shown that we can get good signals from a few hundred cells growing in individual wells on a plate that has over 1500 wells. These 1500 well plates are about the size of a dollar bill and hundreds of these plates can be put through the robotic screening system in a week.

 
The money supplied by the DBA Foundation (DBAF) and DBA Canada (DBAC) will support a student who will work full time with NCATS to optimize the screening assay and to test potential therapeutic compounds that are identified in the drug screen. We are very excited about the prospects for this research and we are proud that the DBAF and DBAC are helping us to make the work go faster." 

WEBSITE ARTICLE HERE 
DBAF Board Member Appointed As Reviewer
Congratulations Jacy Downey!

Congress has again made funds available to the Department of Defense (DOD) for the Bone Marrow Failure Research Program (BMFRP). The DOD, in turn, is making funds available to scientists around the world with the vision of understanding and curing bone marrow failure diseases.

Researchers apply to DOD for support of their research and for research training by submitting an application to be put through the process of peer review. The peer review panel usually consists of ten to fifteen scientists with specific expertise and, unique to the DOD program, one to two people living with bone marrow failure appointed to serve as consumer reviewers. This panel is tasked with assessing the scientific and technical strengths of research applications according to an established set of evaluation criteria.

The DBAF is pleased to announce that our Board Member, Jacy Downey, PhD has been accepted to serve as a consumer reviewer. Jacy stated, "I'm excited to be given the opportunity to represent the DBA community as a reviewer for important bone marrow failure projects to be funded by the DOD. I will do my best to serve the interests and needs of my DBA family."


 
Individuals who have first-hand experience with bone marrow failure and who exhibit accomplishments and commitment to bone marrow failure advocacy and/or support are qualified to participate in scientific peer review as consumer reviewers. Comments made by consumers help to broaden the discussions by including issues such as the quality of life for those living with bone marrow failure, psychosocial needs, and ethical issues.

Consumers represent the perspective of patients, survivors, and family members to the peer review process. Inclusion of consumer reviewers enables those affected by bone marrow failure to participate in the process that helps set the direction for current and future research.

Congratulations to Jacy!
WEBSITE ARTICLE HERE
Become A Monthly Donor
Commit to  a Cure
 
YOUR donations help us to continue funding research! Over the past two years, The Diamond Blackfan Anemia Foundation donation_jar_give.jpg

has reached out to our families asking for their support. Thank you to the families that have responded with their personal donations, and thank you to the families that have made a monthly pledge. We are so pleased that more and more families are making a monthly commitment to the DBAF. From $20/month to $200/month, these monthly donations are easy to set up through your bank or through our website using a credit card or PayPal. Of course, a monthly check can also be mailed to the DBAF. Please join the many other families that have made this commitment.

 
Your generous support is appreciated and will help all DBA families. Please visit our website for donation information. 

http://dbafoundation.org/donate/
 

 
While we are proud of our accomplishments, we realize we must continue to work diligently to fulfill our mission. We need your help. Please consider partnering with us to help find a cure for DBA. I am happy to answer any questions you may have regarding fundraising efforts or the DBAF. Thank you for your careful consideration.
Please commit to find a cure!
Sincerely,

Dawn Baumgardner
Executive Director
716.674.2818 

Show Us Your Logo

Before leaving for college, Leann Bethany of Florence, MS wanted her younger brother to know just how important he is to her. Leann stated, "Hopefully, my tattoo will help raise awareness and I can tell people what Diamond Blackfan Anemia is and the importance of donating blood. I included Lane's name and birthday to signify how important DBA is to me because he's my brother."


Here's the challenge: 

We would like to see how many places we can show off our logo!

logoSnap a picture sporting our logo and send us your story. Draw it, print it out, wear it, wave it, tattoo it, carve it, stick it... be creative! Take us to school, on vacation, to the hospital, on a plane, to the game, in your home... anywhere!  Show us your logo!  Send your photos and stories to DBAFoundation@juno.com.

Journal Club

The only thing that we can know is that we know nothing, and this is the highest degree of human wisdom. Pierre Bezhukov, War and Peace
 

Steve Ellis
Steven R. Ellis, PhD
DBAF Research Direct

This month we turn our eye for the humanities away from music and towards literature. Our focus on literature will be Leo Tolstoy's sprawling masterpiece, War and Peace. The quote above is the culmination of Pierre's musings on the meaning of life: where he reflects on a litany of questions, only to find that his reservoir is empty when it comes to their answers.

The only thing that we can know is that we know nothing. This statement can certainly be construed as a defeatist sentiment but if one traces its roots further in western philosophy, we end up with Socrates and his view that wisdom begins from the wonderings that arise after one admits ignorance on a subject.

How then do I transition from a discourse on nothing to the world of Diamond Blackfan anemia? Well, in a way, as my clinical colleagues tell me, a diagnosis of DBA is typically based on nothing: or perhaps to phrase this statement with a little more sensitivity, DBA is often a diagnosis of exclusion. Basically, what this latter statement means is that after other possible diagnoses are excluded, one is left with DBA.

While this view of how DBA diagnoses are made is clearly an oversimplification, it does point to the fact that historically DBA has been a disease that is difficult to diagnose. This difficulty arises from the lack of a definitive test that distinguishes DBA from other possible diagnoses for a patient presenting with an aplastic anemia. For example, Fanconi anemia is an inherited bone marrow failure syndrome that is caused by a defect in a pathway by which cells repair DNA damage. Cells lacking this DNA repair pathway are unusually sensitive to DNA damaging agents, which has been exploited to create a definite diagnostic test for Fanconi anemia. Such a test is lacking for DBA.

With the identification of a host of DBA genes in recent years, genetic testing has made it increasingly possible for a physician to make a DBA diagnosis with confidence. However, genetic testing only goes so far since not all DBA genes are known and not all mutations in a gene are pathogenic. Thus, even with genetic testing there can remain a certain ambiguity in making a definitive diagnosis of DBA.

This brings us to this month's Journal Club article. A manuscript by Farrar et al entitled "Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis" published in the American Journal of Hematology1. Conflict of interest note: I am a senior author on this manuscript, so I should be considered unduly biased in the viewpoints that follow. Be that as it may, let me continue by saying that the manuscript by Farrar and colleagues has at least one element in common with Tolstoy's masterpiece: it is lengthy and covers a considerable amount of ground. While many published manuscripts have a single major point to make, this manuscript has almost as many points to be made as authors, of which there are many.

The manuscript begins with the case of a child presenting with a bone marrow failure that was difficult to diagnose. 

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Please make sure you "like" us on Facebook and then help spread DBA awareneness by sharing our page and asking your friends to like us, too! https://www.facebook.com/dbafoundation

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