Issue: # 35 
December 2013 
In This Issue
A Season of Giving
What a Great Way to End the Year!
We Were There
Support the ICC!
Journal Club
Like Us and Follow Us

A Season of Giving...
All Year Long

Over the past two years, the DBAF 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.

Since 1994, your donations and fundraising efforts have allowed the Diamond Blackfan Anemia Foundation (DBAF) to provide funding for major research projects that have resulted in the establishment of the DBA National Registry (DBAR), the discovery of defective "DBA genes," a better understanding of DBA on both the molecular and genetic levels, advances in creating animal models, novel approaches to less toxic treatments, and promising advances towards successful therapeutic cures. We have supported and cosponsored international scientific meetings, have sponsored national family conferences and retreats, and have provided our families with informational materials and support. 


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.

Dawn Baumgardner
Executive Director

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What a Great Way to End the Year!
DBAF and DBAC Fund Two More Research Projects Together

The Diamond Blackfan Anemia Foundation (DBAF) and Diamond Blackfan Anemia Canada (DBAC) have done it again! The support of our families and friends has allowed us to fund two more exciting research projects in 2013. We are pleased and proud to announce the funding of Dr. George Thomas and Dr. Johnson Liu. The announcements follow:


The DBA Foundation is excited to announce the funding of Dr. George

Dr. Teng Teng & Dr. George Thomas

Thomas' research project entitled, "The role of p53 in mediating the anemic response in DBA patients with defects in RPL5 or RPL11." Thank you to DBA Canada for their joint funding support to make this possible!  The long-term goal of this study is to understand the mechanisms through which red blood cell precursors in the marrow of DBA patients undergo programmed cell death rather than differentiate into mature red blood cells.   


The $49,274.98 grant to the University of Cincinnati will provide support for Dr. Teng Teng. Dr. Teng stated,"We are grateful to the DBA Foundation and DBA Canada for supporting our studies in examining the molecular pathways linking mutations in ribosomal protein genes to the survival of red blood cell progenitors. Our laboratory has a long standing interest in elucidating the underlying molecular response of cells to impaired ribosome biogenesis. This has led to a working model based on analyses of cell lines from non-hematopoietic tissues and mouse models. With the funding from DBAF and DBA Canada, we will be able to test our hypothesis using genetically engineered human hematopoietic stem cells and potentially, DBA patient-derived hematopoietic stem cells. Results from these studies will aid us in our understanding of the basic molecular mechanism leading to DBA, and potentially in the development of more efficacious targeted therapies." 


The Diamond Blackfan Anemia Foundation is proud to partner with DBA

Dr. Johnson Liu & Dr. Hengjun Chao

Canada to fund a novel gene therapy research proposal from Dr. Johnson Liu, MD at The Feinstein Institute for Medical Research. The $48,210 project is titled, "Repairing Dominant Negative Mutation of RPS19 Gene by Spliceosome-Mediated RNA Trans-Splicing." This approach takes advantage of the fact that human genes are made up of pieces of genetic information that are spliced together at the level of mRNA before they go on to create a protein.  The goal of this proposal is to swap one piece of coding information for another through a process called trans-splicing.  Using this approach, the coding information carrying a DBA-causing mutation will be swapped with normal coding information lacking the mutation. 


Dr. Liu stated, "Normally, a person inherits one copy of a gene from mother and one copy from father, and in DBA, one abnormal gene is sufficient to cause the disease.  Our project aims to develop a new gene therapy strategy to treat DBA by repairing the message from the single abnormal gene that causes DBA.  The technology to do this was largely developed by Dr. Hengjun Chao, a prominent molecular biologist, who will be joining the laboratory to work on this important project.  We are extremely grateful to the DBA Foundation and DBA Canada for supporting our project and look forward to contributing to new therapies for DBA."


We Were There


The Diamond Blackfan Anemia Foundation (DBAF) and Diamond Blackfan Canada (DBAC) proudly represented DBA at the 55th American Society of Hematology (ASH) Annual Meeting and Exposition held in New Orleans, LA from Dec. 7 - 10, 2013. The event was attended by over 20,000 worldwide hematologists, researchers and other health-related professionals. Visitors to our booth received information regarding DBA clinical care, patient opportunities, and research. Thank you to all our families for asking your doctors to stop by. We enjoyed meeting them!
More photos and information is on our website.



The DBAR in collaboration with the Pediatric and Adult Endocrinology at Cohen Children's Medical Center and North Shore LIJ Health System, respectively, did a review of 12 patients who had an endocrine evaluation when they visited our institution. Most of these patients were adults and most were on chronic blood transfusion therapy. Importantly, over half were found to have endocrine issues including low male/female hormones, low thyroid function, Vitamin D deficiency, diabetes and growth hormone deficiency. Two of these patients were diagnosed with their endocrine issues before age 18. For this reason, the DBAR has started the study described below. Please participate. If you have already spoken to Dr. Lahoti, please get the blood work done and send the results to the DBAR or to him. If you want to participate, please call the numbers below. If you don't want to participate in the study, please get the bloods done anyway and have your doctor look for the endocrine issues - get on top of these NOW. Don't wait until a problem happens!! It is always best to prevent than to treat!! This study will close to new patients by March and all results will need to be in by April so they can be analyzed. Dr. Lahoti will be leaving in June as his training will be completed.


The Diamond Blackfan Anemia Registry (DBAR) has noted that these and other patients with DBA have issues that may be due to the hormone-producing gland (endocrine) system abnormalities, including short stature, thyroid dysfunction, delayed puberty in both boys and girls, and diabetes. We are interested in determining if these problems are due to long-term continuous steroid use, iron overload from transfusion therapy or from DBA itself. We are therefore recommending an endocrine evaluation for all DBA patients, those with endocrine issues and those without. We are hoping to assist those with endocrine abnormalities as well as document what they are. We are also gathering information on patients without endocrine problems to see if we can screen for them, predict them in advance, and possibly treat them before they occur.


Support  Progress... Support the ICC!!
In March 2014, the Diamond Blackfan Anemia Foundation will sponsor the 13th Annual DBA International Consensus Conference (ICC). This is THE premier DBA scientific/research meeting that was founded and previously hosted by the Daniella Maria Arturi Foundation. The DBAF is proud to continue this very important meeting and we are currently looking for sponsors to help offset the cost of the meeting.  If you, your company, or an interested party is willing to invest in the success of the ICC, please contact Dawn at for more information. Your support is appreciated!. 
Journal Club

A Year-End Review

Steve Ellis
Steven R. Ellis, PhD
DBAF Research Director


As 2014 rapidly approaches I thought I would take this opportunity to do a year-end review of 2013 from a decidedly DBA-centric point of view.  Below are some of the highlights from 2013 with an occasional nod back to 2012 and beyond.

  • January 2013 - The first clearly documented case of DBA presenting during fetal development 

A study led by a group in France documented the first case of hydrops fetalis in a fetus harboring a mutation in the RPS19 gene (Da Costa, Chanoz-Poulard et al. 2013) These studies suggest that DBA may be under diagnosed and contribute to miscarriages in the general population.  Moreover, this finding has significant implications for genetic counseling in families with a history of DBA and more broadly in the general population.

  • June 2013 - Opening of the leucine trial for transfused DBA patients
Building on preliminary data from the Czech Republic and several animal models for DBA, the Cohen Children's Medical Center announced that the trial for leucine in transfused DBA patients is now open.  The ability of leucine to ameliorate phenotypes in animal models of DBA has raised considerable hopes for this treatment, but anecdotal reports from studies in humans have been conflicting (Pospisilova, Cmejlova et al. 2007, Jaako, Debnath et al. 2012, Payne, Virgilio et al. 2012).  This carefully controlled clinical trial should   


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