Issue: # 47
February 2015 
In This Issue

       Don't miss this opportunity to help the DBA Foundation secure $10,000


We are almost there!  Will you help us reach the $10,000 Challenge? Please make the commitment to support DBA patients, families and research with your monthly donation.

Recently, a great grandmother of a DBA child died and her family has chosen to continue her legacy of giving and generosity by offering the following challenge.

For every new donor that commits to a monthly donation, the family will donate an additional $500 up to $10,000.  Many families and friends support our mission with a $20, $50, $100 or $200+ monthly gift.  Automatic monthly donations can be set up through PayPal or credit cards on our website (, through your banking institution, or a check can be mailed to the DBAF on the 1st or 15th of every month. It's easy and very much appreciated!

The DBAF is grateful to this very special family for their generosity and lasting tribute to a beautiful woman. We hope you will accept this challenge! Please consider partnering with us and become a monthly supporter. Sign up today.

For more information, please contact Dawn Baumgardner at 716.674.2818


Make a difference  

Upcoming Events

In Honor of Audrey
March 14, 2015
St. Edward Parish and School
Jeffersontown, KY
More information on Facebook: 

Kick For A Cause
March 14, 2015
Nova Southeastern University
Fort Lauderdale, FL

DBA Craft/Bake Sale & Blood Drive
April 3 & 4 , 2015
Lillian Schumacher Elementary School
Liberty, MO 
Lea Ann Soto

Light up the Night 5K to benefit Team Irelynn
April 17, 2015
MC Anderson Park at Georgia
Southern University
Statesboro, GA
More information:

10th Annual Strike Out DBA Fundraiser
April 25, 2015 
Starlite Lanes
Grand Haven, MI
Justin & Tammi Lanore

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

(3 Styles)
In honor of...
In memory of...
Holiday giving...
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
You Shop... Amazon Gives!
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.
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
DBAF Funds Our "Indispensable Steve"
Thank you Dr. Steven Ellis
Steve EllisThe Diamond Blackfan Anemia Foundation (DBAF)  is pleased to support the hard work and research efforts of Steven R. Ellis, Ph.D. at the University of Louisville. Dr. Steve Ellis' professional and personal commitment to DBA is immeasurable and deeply appreciated. Not only is Steve our dedicated (and unpaid) Research Director, who is working tirelessly behind the scenes, he also writes the DBAF's e-newsletter monthly Journal Club and his laboratory provides valuable research support services to the wider DBA Community.The DBAF is excited and humbled to award $20,000 to Dr. Ellis to continue to provide experimental services to clinicians and scientists worldwide who are in need of his laboratory's expertise in studying different aspects of ribosome synthesis relevant to DBA.

Steve stated, "I greatly appreciate the DBAF's support and encouragement, and look forward to being able to continue to provide support to the global DBA community."

Adrianna Vlachos, M.D. is the Head of the Bone Marrow Failure Program at Steven and Alexandra Cohen Children's Medical Center of New York, an Associate Professor at Hofstra North Shore-LIJ School of Medicine, and the Director of the North American Diamond Blackfan Anemia Registry (DBAR). Dr. Vlachos commented, "The Diamond Blackfan Anemia Registry has been associated with Dr. Steven Ellis since his first DBA meeting. He is an enthusiastic ribosome biologist who makes this complicated science understandable. His role in DBA has become indispensable since the majority of patients have genetic defects in one of their ribosomal proteins. The DBAR has been instrumental in finding new mutations causing DBA. This is accomplished with the specimens collected from DBA patients on their visits here at our center or those sent to us by their participating hematologists. But, how do we know if the new gene mutations that we find are truly causing the disease? Well - that is the question that Dr. Steven Ellis answers for us. Through his laboratory work, he can test the patient's blood (in particular, the RNA) by profiling the ribosomes and seeing if there is a decrease in one of them. His work is invaluable to DBA research, in general and the DBAR, in particular."

The DBAF is grateful to Dr. Steve Ellis for the integral roles he plays in researching DBA and in the lives of all DBA patients and their families. Thank you, Steve!

Save the Dates
Camp Sunshine logo
The Diamond Blackfan Anemia Foundation (DBAF) is pleased to announce the dates for our tenth family meeting at Camp SunshineDBA families will meet July 12 - 17, 2015 in Casco, Maine for a week of information, support, and fun. More details will follow shortly. Applications will be available online soon (Please do not call Camp!). Space is limited. Watch your emails for further information or please feel free to give Dawn a call at 716.674.2818.
Thanks Amazon Shoppers - Keep Shopping!
Give While Shopping

Thanks to you, Amazon Shoppers, the DBAF has received over $900!  Want to help? 
The Diamond Blackfan Anemia Foundation is participating in the AmazonSmile program. AmazonSmile offers the same wide selection of products, low prices, and convenient shopping features as The important difference is that when customers shop through AmazonSmile (, the AmazonSmile Foundation donates 0.5% of the price of eligible purchases to the charity of your choice!
It simple to do and will not add to the price of your purchase. Visit, select Diamond Blackfan Anemia Foundation as your charity, and let the shopping begin! You can use your existing Amazon account on AmazonSmile. Once you select the Diamond Blackfan Anemia Foundation as your charity, all your shopping visits will benefit the DBAF! It's free and easy. Start your Amazon shopping on AmazonSmile today! 
Where Are You ?
Help Us Keep in Touch

Did you move? Need to add a new address, phone number, email address? Are you a recently diagnosed family?

Please help us keep our records current! Take a moment to visit our website and fill out the registration form. Patient/Family Registration Form 

Help us to reach all our families.
If you are aware of other DBA families in your area, please encourage them to contact the DBA Foundation.

Please note that the Diamond Blackfan Anemia Registry (DBAR) and the Diamond Blackfan Anemia Foundation (DBAF), are not allowed to share your personal information.  It is necessary to register with both the DBAR and the DBAF.

If you have any questions, or to check on the status of your information, contact Dawn at 716.674.2818 or 

Show Us Your Logo

Our logo was everywhere! Many thanks to Charlie & Debbie Brown of Virginia for hosting a recent fundraiser to benefit the Diamond Blackfan Anemia Foundation in honor of their daughter, Caitlyn Rose. In conjunction with blood and bone marrow registry drives, the Brown family raised over $1800 for the DBAF. Great job!

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

Journal Club

Physician heal yourself

Steve Ellis
Steven R. Ellis, PhD
DBAF Research Director

This well-known proverb from the Gospel of Luke takes an exciting transformation in this month's Journal Club to

 Ribosome heal yourself

The possibility of this modified proverb coming to fruition as a potential treatment for certain patients with DBA came one step closer with the publication of a recent manuscript entitled: "Ataluren treatment of patients with nonsense mutation dystrophinopathy."  While the disease addressed in this Phase 2b clinical trial was muscular dystrophy, it seems reasonable to envision that the results from this trial may extend to certain patients with DBA.

The patient sub-population in inherited genetic diseases that may benefit from the drug Ataluren is patients with nonsense mutations in protein coding genes.  In the trial with Ataluren the gene involved encodes the protein dystrophin, but the hope is that the effects may be generalizable to virtually any protein-coding gene causing a human disease, including the genes affected in DBA.

I've discussed the types of mutations that occur in protein coding genes in this venue before.  These mutations affect the readout of the genetic information from mRNA to protein.  The protein-coding information contained within an mRNA begins with a start codon that initiates the synthesis of a protein.  The ribosome then moves down the mRNA reading the genetic code in groups of three bases, adding one amino acid at a time to the growing protein until the ribosome reaches a termination codon.  Once the ribosome encounters a termination codon, protein synthesis is halted and the protein is released from the ribosome where it can then perform whatever function it is destined to do within the cell.

Nonsense mutations arise when there is a mutation in the gene that changes a base in the coding region of an mRNA from a codon that encodes an amino acid to a codon that now specifies termination.  These mutations fall somewhere between the initiation codon and the normal termination codon, thus resulting in premature termination of protein synthesis.  Premature termination often results in a protein that lacks all of its parts and so can result in the loss of a protein's function and cause a myriad of human diseases, depending on the protein affected.

It has been known for many years that certain classes of antibiotics cause the misreading of termination codons allowing the ribosome to pass through a termination codon without stopping.  It was therefore thought that these drugs could potentially be used to treat diseases caused by nonsense mutations.  These drugs however have side effects that have diminished enthusiasm for their use in treating genetic diseases.  This did not, however, stop research into finding safer drugs with similar modes of action.

One such drug was developed by the small pharmaceutical company called PTC Therapeutics, which was begun by University researchers studying the consequences of premature termination in yeast (here I will shamelessly give a shout out to the importance of basic science research and not knowing where such research will lead).  The drug, Ataluren, works by an unknown mechanism that allows ribosomes to read through premature termination codons while still allowing normal termination codons to function.  This drug showed promising results in model systems of different human genetic diseases and a proof-of-concept Phase 2a clinical trail.   The current study goes one step further to a Phase 2b randomized double-blind clinical trial comparing 2 doses of Ataluren with placebo.

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