Issue: # 49
April 2015 
In This Issue


camp logo

The Diamond Blackfan Anemia Foundation is proud to announce our tenth national family retreat. This retreat will take place during the week of  July 12 - 17, 2015 at Camp Sunshine, which is located at Lake Sebago, Maine. Air carriers fly into Portland, Maine.  Ground transportation is provided by Camp Sunshine to the campus.

 Camp Sunshine has proven to be an unforgettable experience for the families that have attended.  We are grateful to Camp Sunshine for extending an invitation to us once again this year. Lodging and three meals daily are provided. Camp also plans daily activities for the entire family, and offers parents an opportunity to share their experiences and exchange information. Aside from the benefit of meeting other families, the DBAF has also obtained commitments from DBA clinicians and researchers to come and share their medical expertise and to update us on current research.

 Final selection of families chosen to attend is determined by Camp Sunshine. Completed applications and physical examination forms should be returned to Camp Sunshine as soon as possible, due to the limited availability of family accommodations. Travel expenses are the families' responsibility.

For more information and the link to the application, please


Upcoming Events


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


Wristbands Available 
Twila Edwards



Tribute Cards Available

(2 Styles)
In honor of...
In memory of...
Dawn Baumgardner 
  donation donation
5" x 5" Stickers Available
Dawn Baumgardner 
  window sticker


7" x 5" Decals Available
David Voltz
Cure DBA decal_Voltz.  


AmazonSmile Program
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If you shop on Amazon, please log in using, select Diamond Blackfan Anemia Foundation as your charity, and shop as usual. Amazon will donate .05% of your purchase to the DBAF.
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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
Another Month of Funding!
DBAF and DBAC Fund Continuing Drug Development Research

In January, we were pleased to tell you about the colloboration between the Diamond Blackfan Foundation (DBAF) and DBA-UK to provide funding for Nicholas James Watkins, Ph.D., a senior lecturer in the Institute for Cellular and Molecular Biosciences at the University of Newcastle upon Tyne in the United Kingdom. In February, we enthusiastically reported the DBAF's funding of the research efforts of our indispensable Research Director, Steven R. Ellis, Ph.D. at the University of Louisville.

This month, the funding continues!
The Diamond Blackfan Anemia Foundation (DBAF) and Diamond Blackfan Anemia Canada (DBAC) are joining forces once again to fund Johan Flygare, M.D., Ph.D.'s project entitled, "A novel group of kinase inhibitors for treatment of Diamond Blackfan Anemia." The goal of this $35,000 project is to develop safer and more potent drugs to treat DBA.
Kavitha Siva and Dr. Johan Flygare  

Ideally, these drugs would act by correcting part of the underlying problem causing the anemia. In previously funded research, Dr. Flygare's lab utilized cells from their DBA mouse to test more than 12,000 chemical substances and they identified a group of molecules that had a therapeutic effect on the formation of red blood cells.  Additionally, the preliminary research identified 12 potential drug targets. Based on this solid preliminary data, Dr Flygare's project plans to continue researching these compounds for further drug development and a completely novel strategy for treating Diamond Blackfan Anemia.

Dr. Flygare stated, 

To me it makes a very big difference if funding for a project is supported by tax payers or, like in this case, by people who worked hard to raise this money and choose to donate it specifically to our project. That you believe in us is an energy boost for the whole team! When I started my own lab in Lund, Sweden, my first goal was to start a project with the aim to identify a new candidate DBA drug. During the last three years, Kavitha Siva in my group has screened more than 12,000 chemical compounds in collaboration with two chemical biology groups in Sweden. We have now identified several new and promising compounds that rescue production of red blood cells in our RPS19-deficient mouse model for DBA. We are now at the stage where we are trying to figure out how these compounds work. The experiments required to identify the drug target and explain the therapeutic mechanism are expensive and I am truly grateful that the DBA Foundation and DBA Canada support these studies with this grant.

The DBAF and DBAC thank Dr. Flygare, Kavitha Siva and the entire team at Lund for their continued hard work and commitment to this very exciting project.  A big thank you to all our supporters!  Your donations and fund raisers are appreciated and make funding research possible.

Exjade has a New Formulation
Jadenu tablets can be swallowed

Novartis announced that the US Food and Drug Administration (FDA) has approved Jadenu™ (deferasirox) tablets, a new oral formulation of Exjade.

Please note: It is important to understand the options available for iron chelation. The drug names are very similar 
and can be confusing. Make sure you understand what drug is prescribed. Deferiprone (Ferriprox) is an oral chelator and should not be confused with the new oral formulation of Exjade that is called, Jadenu.


 deferoxamine = Desferal
deferasirox = Exjade AND Jadenu (new oral formulation of Exjade.)
deferiprone = Ferriprox

In the US, deferoxamine (Desferal) and deferasirox (Exjade and Jadenu) are prescribed for DBA patients with transfusional iron overload. Deferiprone (Ferriprox) is NOT recommended, except in severe cases. As stated on pg. 77 in the drug briefing document from the Advisory Committee, "Clinical experience suggests that deferiprone-induced agranulocytosis is more severe in patients with Diamond-Blackfan anemia than in patients with other conditions underlying transfusional iron overload, although small numbers hamper the strength of that conclusion. Nevertheless, ApoPharma recommends that deferiprone therapy in patients with Diamond-Blackfan anemia should not be initiated except as a last resort."


DBA Bracelet of Hope

Handcrafted in Blue Ridge, GA, this meaningful bracelet features five leather bangles in "DBA red." Each bangle represents the "facets" of our DBA world - patients, families, researchers, clinical caregivers, and donors. The silvertone bar on each bangle symbolizes the progress made so far and the silvertone beads are the glimmers of hope we have for a cure. One lone, lab-created ruby signifies the "elusive" red blood cell and is embraced by silvertone, portraying our hope and love. Bracelets are $40 each + $2 US shipping. All proceeds benefit the DBA Foundation to fund research. An explanation of the bracelet is included. Order via PayPal at or send a check to DBA Bracelets, c/o Kathi Vroman 6268 Benbrooke Way, Acworth, GA 30101. These are beautiful! Thank you, Kathi.

Journal Club
An update on gene therapy and DBA
No man is an island,  
or so sayeth John Donne, a Jacobean poet and preacher.  I'm sure I am not
Steve Ellis
Steven R. Ellis, Ph.D.
DBAF Research Director 
original in my view that what Donne was speaking of with this phrase: most certainly the concept that no person is independent of the influence of others or the influence that they may have on others.

The same could be said of genes.  Genes are not found floating in the nucleus of cells as independent entities.  Nay, they are found as part of chromosomes, 46 of which are found in the nucleus of most cells in our body.  Each chromosome is composed of two strands of DNA winding about one another, one heading left to right and the other right to left (so to speak).  These strands of DNA are composed of deoxyribonucleotides linked to one another through phosphodiester bonds.  There are millions, sometimes hundreds of millions, of deoxyribonucleotide units per strand of DNA in each of our chromosomes.

Within these hundreds of millions of deoxyribonucleotide units is information that codes for the tens of thousands of proteins residing in the human genome.  This information is stored within the sequence of the four-deoxyribonucleotide bases that make up DNA (GATC).  As has been discussed in this forum previously, each of these genes contains additional information (also embodied in the base sequence) needed for the appropriate expression of each gene.  By appropriate, I mean that the gene is expressed in the correct cell type, at a fitting time in development, and in just the right amounts.

When one cell becomes two during cell division, all this genetic information spread across 3.5 billion base pairs of DNA needs to be faithfully copied with one genetic blueprint retained in the original mother cell and the second transmitted to the newly created daughter cell.  This segregation of genetic information between mother and daughter cell is made much easier by having our genes packaged in 46 chromosomes as opposed to having to distribute exact copies of tens of thousands of individual genes between mother and daughter cells during each cell division.

These requisites for faithful transmission of genetic information from one cell to another bring us to this month's Journal Club.  The manuscript I'll be discussing is from the laboratory of Stefan Karlsson, an established investigator in the DBA field who has had a longstanding interest in using gene therapy as a cure for DBA.  The title of the article is "Gene therapy cures the anemia and lethal bone marrow failure in a mouse model for RPS19-deficient Diamond Blackfan anemia"1.  
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