Issue #2 September 2010
In This Issue
We Want You!
Families Fund Research
Look What's Cooking
We Want You!

The DBA Foundation is proud to serve our DBA families. We need your help! Please ensure that your contact information is complete and updated. Also, if you are aware of other DBA families in your area, please encourage them to register with the DBAF using the registration form on our website or by calling Dawn Baumgardner at 716.674.2818.
The Fall edition of the DBA Newsletter is in process.  Please submit your stories, kudos, ideas, artwork, photos, etc. to
THANK YOU for keeping us strong!
Upcoming Events

Friends of DBAF Golf Outing and Silent Auction
September 18, 2010
Cherokee Hills Golf Course
Valley City, Ohio
Jim and Carol Mancuso

Kevin J. Gately Memorial
September 25, 2010
Paddy's Kelly Pub
Peabody, MA

Kevin J. Gately Fundraising Event
October 1, 2010
The Lyceum Bar & Grill
Salem, MA

DBA Family Day - California
October 2, 2010
Lucile Packard Children's Hospital at Stanford
Palo Alto, CA
Kirsten Mouradian, RN

DBA Family Day - Texas
November 6, 2010
Children's Medical Center Dallas & The University of Texas Southwestern Medical Center
Dallas, TX
Debbie Boger, RN

DBA Day - New York
November 13, 2010
Steven & Alexandra Cohen Children's Medical Center of NY
New Hyde Park, NY
Ellen Muir, MSN, CNS
877. DBA. NURSe

DBA 5K Walk/Run
April 23, 2011
Republic Parks & Recreation Center
Republic, MO
Jacob & Scarlett Buckmaster

Join Our Mailing List

Quick Links
Join the DBA Yahoo Group
Find us on Facebook
Follow us on Twitter
:: 716-674-2818
The Diamond Blackfan Anemia Foundation (DBAF) is committed to keeping you updated and connected to the entire DBA community. The Diamond Blackfan Anemia Foundation is YOUR Foundation!  We encourage you to share your ideas, photos, and stories for our website and upcoming newsletters. Please contact us at
 DBA Families Continue to Fund Research

The mission of the Diamond Blackfan Anemia Foundation, Inc. (DBAF) is to collectively and actively generate funds for the charitable and scientific purpose of furthering, by clinical study, laboratory research, publication and teaching, the knowledge of the disorder known as Diamond Blackfan Anemia (DBA). Our intentions are to share this knowledge, to inform, to lend support, and to communicate with all families of DBA patients.

We are proud and honored to announce the funding of two approved research projects. Through the dedication and efforts of our patients, families, and friends, the DBAF enthusiastically supports the following researchers:

Paul de Figueiredo, Ph.D., Assistant Professor, Texas A&M University, was awarded a $43,256 grant for the project "Discovering Therapeutics for DBA." The long-term goal of this study is to develop small molecule therapeutics for Diamond Blackfan Anemia (DBA), by screening for molecules that overcome growth defects associated with decreased expression of ribosomal protein S19 in a yeast model of DBA.  Yeast are remarkably versatile microorganisms that share many aspects of ribosome biology with humans.  Because of their small size and ease of growth they are readily amenable to what are known as high throughput drug screens where thousands of compounds can be assessed for their effects on cell growth.  The Figueiredo lab will initially screen 25,000 chemical compounds for their ability to reverse the effects of reduced expression of Rps19 on cell growth.  Any compounds identified in the yeast screen will be examined for their ability to compensate for reduced expression of Rps19 in human cell lines.  Dr. Figueiredo has had substantial success using a similar approach to identify lead compounds for therapeutic development in another ribosome-related bone marrow failure syndrome Shwachman Diamond syndrome (SDS). 

Hanna T. Gazda, M.D., Instructor in Pediatrics Harvard Medical School, was awarded $51,512 to continue her efforts to identify genes mutated in patients with DBA.  Dr. Gazda has played a major role in the identification of most of the 11 known DBA genes.  Her discoveries have clearly established DBA as a ribosomopathy which has helped direct research efforts on many aspects of this disease.  Approximately 50% of DBA patients have mutations in one of the 11 known genes.  In the remaining patients, the defective genes have evaded detection by conventional DNA sequencing. Dr. Gazda now plans to use sophisticated whole genome approaches to identify these remaining genes. The aim of this study is (1) to perform comparative genomic hybridization to search for deletions and duplications in  ribosomal protein genes that could not have been picked up by DNA sequencing; (2) to perform whole exome sequencing ("next generation" sequencing) to potentially identify non-ribosomal protein genes that may be mutated in DBA.  This latter approach is daunting in that 10's of thousands of genes will need to be sequenced and analyzed for sequence changes that may be linked to patients with DBA. This project will result in a more complete picture of the genetic causes of DBA and the pathogenic mechanisms that result.

On behalf of all our DBA families, the DBAF is proud to fund these exciting research projects and is committed to continuing to fund projects that will provide a better understanding, better treatment options, and ultimately, a cure for DBA. Currently, there are three approved proposals awaiting funding, with the promise of more to be submitted. By working together, we are confident that the DBAF will be announcing more funded research projects soon!!  Thank you to everyone who helped to fund these proposals. Please help us fund the other very important studies!

Look What's Cooking

Many thanks to Betty Lightner for spearheading a DBA cookbook fundraiser. In order to compile this delicious book of palate pleasers, Betty needs your favorite (and maybe your secret!) recipes. In addition, artwork and photos may also be submitted. Hurry, the submission deadline is Oct. 15 to ensure delivery by the holidays!

Please contact Betty at to be a part of this exciting, mouth-watering project. 
Wear Your Support

Our DBA Wristbands continue to be a big hit! We sincerely thank Twila Edwards for continuing to make these popular wristbands available to our families and friends. Both sizes are currently in stock. For information on how to order yours, please visit our website or email Twila at