Issue: # 31
June 2013 
In This Issue
Write for it!
It's Been A Busy Month!.
Skin cells to blood cells, oh my!.
New Research Reveals Why Glucocorticoids Increase Red Cell Production
Dr. Jeffrey Lipton Honored
Leucine Clinical Trial Opens
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Journal Club
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Write for it!

Although many advances have been made in understanding DBA, more needs to be done if we are to find better treatment options, and hopefully, a cure. As DBA families and friends, we have a a vested interest and a responsibility to ensure that research continues.

Our hope for a cure is research. The DBA Foundation has recently received numerous grant proposals from researchers around the world. We are excited and encouraged that DBA has caught the attention of prominent researchers. But... that means we need your support more than ever! 


The DBAF is asking our families and friends to support our efforts with your personal donation and commitment. Next, we are hoping for your participation in a letter writing campaign. The DBAF has written and printed the letter for you, and will provide you with the requested number of letters and envelopes. Simply sign the letter with a personal note and mail to your friends and families.  It's quick and easy! The DBA Foundation is a 501(c)(3) organization and all donations are fully tax deductible as allowed by law.


Our hope for a cure is research. Your participation in this letter writing campaign is encouraged and appreciated. The DBA Foundation is proud of our accomplishments. We realize that it is only through the commitment of our friends and families that we are able to fulfill our mission of supporting DBA patients, families, and research.  


Please feel free to contact Dawn regarding this opportunity to help the DBA Foundation at or 716.674.2818. 

THANK YOU for your support!  Donate TODAY!
Upcoming Events


Miracle Mile: Makenna and Maggie's Race for Research (to benefit DBAF abd CureSearch)

July 3, 2013 
Houlton, Maine
Contact and Info:
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Kevin J. Gately Foundation Golf Outing
July 15, 2013 
Black Swan Country Club
Georgetown, MA



DBA Family Meeting 
July 21 - 26, 2013  
Camp Sunshine
Casco, ME 
Dawn Baumgardner

Friends of DBAF Golf Outing
& Silent Auction  
September 7, 2013
Briarwood Golf Club
Broadview Heights, OH
Jim & Carol Mancuso

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.
Dawn Baumgardner
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It's Been A Busy Month!

This month's e-newsletter is filled with exciting developments and news from the DBA world! 

Below you will find two stories regarding important research advances. In the DBA Nurses' Corner, you will read the announcement regarding the opening of the leucine clinical trial. Dr. Steve Ellis' reprinted Journal Club article explains some of the science behind leucine. And last, but not least, a big congratulations to Dr. Jeffrey Lipton!

It has been a busy, productive month! The DBAF will be hosting our 9th Family Meeting at Camp Sunshine in July. We may have a few openings left and this year proves to be an informative year! Camp information is on our website, click here to read more or contact Dawn Baumgardner at Plans are underway for the scientific meeting, the DBA International Consensus Conference (ICC), to be held in March 2014. Numerous researchers have submitted proposals requesting funding for their DBA research projects (and we are expecting more!). Our dedicated, hard-working, Research Director, Dr. Steve Ellis, has sent the proposals to be reviewed by experts in the fields.  Stay tuned... Hopefully, we will be announcing more funded research projects soon! Your donations will make it possible to fund these approved projects. Click here to donate!

Skin cells to blood cells, oh my!
Breakthrough DBA Findings Published in BLOOD red blood cell.

Dr. Mitchell Weiss, Dr. Monica Bessler, Dr. Philip Mason and their entire team at The Children's Hospital of Philadelphia have shown that skin cells from patients with DBA can be reprogrammed to produce blood cells. This breakthrough work is a step forward in understanding DBA and could lead to exciting new approaches in gene therapy and treatment options.

For many years, physicians and scientists have been trying to find out what goes wrong with the blood in patients with Diamond Blackfan Anemia and why they can't make the same number of red blood cells as other people. The answer most likely can be found by studying the bone marrow precursor cells that are destined to become red blood cells. Unfortunately, there are very few of these cells in the bone marrow of DBA patients. In addition, obtaining these cells requires bone marrow sampling, which can be painful and inconvenient for the patient. Some progress has been made by generating "human DBA-like mutations" in other species such as yeast, flies, fish and mice and these models have been used in research efforts. However, human based experimental systems for studying DBA have been unavailable.

Now a breakthrough has been made... CONTINUE READING HERE



Dr. Harvey Lodish of the Whitehead Institute published new findings identifying a protein that is the target of prednisone or prednisolone, the drugs that are used to increase red blood cell production in some patients with Diamond Blackfan Anemia. The discovery could spur development of drugs capable of increasing this protein's production without causing the severe side effects associated with glucocorticoids. Click the title to read the full article, Scientists Identify Potential Drug Target for Treatment-Resistant Anemias.

DBA patient, Katie Trebing, receives Courage Award
Dr. Lipton and Katie


Please join us in congratulating one of DBA's true heroes, Jeffrey M. Lipton, MD, PhD, Director, Hematology/Oncology and Stem Cell Transplantation at Cohen Children's Medical Center of New York. On June 12, 2013, Dr. Lipton was honored by the National Cancer Center for his outstanding career of advancing science. His extensive research in hematology and stem cell transplantation has changed the lives of many patients.  

One of those patients is ten year old DBA patient, Katie Trebing. Katie, along with four other of Dr. Lipton's patients, received Courage Awards during the event.  Katie underwent a bone marrow transplant in 2006 and is a testament to both courage and spirit. Katie's mother, Stacy, added, CONTINUE READING HERE


We are pleased to announce the opening of:

"The Use of Novel Therapies to Reconstitute Blood Cell Production and Promote Organ Performance, using Bone Marrow Failure as a Model:A Pilot, Phase II Study of the Amino Acid Leucine in the Treatment of Patients with Transfusion-Dependent Diamond Blackfan Anemia" 


Diamond Blackfan Anemia (DBA) is a rare pure red cell anemia resulting from a failure of the bone marrow to make red blood cells. The anemia may present in infancy, in childhood, or occasionally in adulthood. For some patients a genetic cause for DBA can be found but for others no known genetic mutation is known at this time. Some patients have little or no anemia after treatment with steroids, whereas others may need continuous red blood cell transfusions or steroid therapy for a long time, sometimes for life. Steroids may control DBA in many patients at first, but after some time, the steroids may not work as well anymore. Red cell transfusions have many possible negative side effects, such as iron overload. Iron overload can occur in the liver, heart, and endocrine organs which can cause more complicated health problems such as liver or heart failure, diabetes, thyroid issues, etc.

Purpose of this project
The purpose of this study is to find an alternative treatment for patients with DBA who are dependent on transfusions, to better their quality of life. 
Show Us Your Logo
Owl eyes

Tina Bethany and Victoria Boatman, two DBA moms from Mississippi, are proud owners of this adorable owl made especially for them by a very talented friend. Look closely at whoooo's looking at you with our DBA logo in their eyes!  

Here's the challenge: We would like to see how many places we can show

DBAF Logo off our logo! Snap 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 to

Journal Club

Leucine Re-visited (Reprinted from October 2012 edition)

Steve Ellis
Steven R. Ellis, PhD
DBAF Research Director 

In consideration of the opening of the leucine clinical trial, this past Journal Club article seems very appropriate:

Since I'm not running for political office, I thought I would take the opportunity in this Journal Club to be brutally honest.  I dropped the ball.  Yes, I said it, I dropped the ball.  Two months back, Dawn suggested that I discuss two recent research papers relevant to the use of leucine in treating DBA.  Since I figured I already knew what was in these papers and didn't see what the big deal was (I'll come back to this point below), I  pushed instead to cover the ribosome synthesis meeting which was fresh on my mind and filled with exotic new information I felt might be relevant to DBA.  Then, last month with all the excitement and effort put into the Chase Charity effort, it was decided to forego September's newsletter.  So here we are two months later, and I have finally gotten around to taking up the leucine story.


So I rolled up my sleeves and did a pubmed search of Diamond Blackfan anemia and what did I see? -  "Leucine alleviates Diamond Blackfan anemia," an article published in the premier hematological journal, Blood (Kamimae-Lanning & Kurre, 2012).  This article is a commentary on two primary research papers published in the same issue of Blood (Jaako et al, 2012; Payne et al, 2012).  In addition to these articles, there was a fourth entitled, "Activation of the mTor pathway by the amino acid L-leucine in the 5q- syndrome and other ribosomopathies;" where again the effect of leucine in DBA is highlighted.  So it's hardly surprising that this flurry of manuscripts stimulated a great deal of interest in the DBA community, so again, my apologies for not discussing this subject sooner.


I mentioned that I didn't see what the big deal was with the two primary research articles that stimulated this firestorm of interest.  It is not that there is anything wrong with these articles, in fact they are quality research carried out by some of the leaders in the field, it's just that they don't change the underlying fact that the only way we are going to find out if leucine alleviates DBA "in humans" is with a carefully controlled clinical trial; and if you read the fine print in any of these articles, that is the underlying point each makes.


Unfortunately, this latter point doesn't always come across in the titles we choose. Leucine alleviates Diamond Blackfan anemia... certainly suggests that taking leucine would alleviate the underlying clinical features of DBA, leading many, I suspect, to wonder why their physicians aren't prescribing leucine.  But is that what the authors really meant?     

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