Issue: # 39 
June 2014 
In This Issue
Message from DBAC
DBAF Funds More Research
Mother's Day to Father's Day Celebration SUCCESS
DBA Mom Could Earn DBA Research Dollars
Show Us Your Logo
Journal Club
Attn: Amazon Shoppers
Like Us and Follow Us

A Message From DBAC


Hello Families,
We would love for all of you to be a part of the first edition, DBA  Family Photography book. This will be a 
10 x 8 coffee table book filled with creative, beautiful, amateur photography. 


Grab your cameras and show us what you've got! We are looking for any tasteful photographs that you have taken and want to share. We are asking for your best shot, including photos of landscapes, skylines, flowers, children, animals, nature,etc. that you have captured and are willing to share in a professionally printed book.


Along with your high quality, high resolution photo, please send  a couple of paragraphs about your DBA journey and a small picture of you or your DBA child to be included in the book. 
We are also accepting submissions from family members, friends, caregivers, researchers/doctors of DBA patients and families. Along with these pictures, photographers are encouraged to include one line with words of encouragement for the DBA patient and family. 


Once completed, this book will be a compilation of all of our work. It will be a beautiful book to look at, as well as telling our DBA stories and sentiments offering encouraging words. 
The books will go on sale and proceeds will benefit supporting DBA research.


For more information, please email
Janet Pereira
Executive Director
DBA Canada 



Upcoming Events


Miracle Mile: Makenna and Maggie's Race for Research 

July 3, 2014

Houlton, Maine
Contact and Info:
Facebook page 
Kevin J. Gately Foundation Golf Outing
July 14, 2014
Black Swan Country Club
Georgetown, MA


Panda Express Fundraiser 

July 19, 2014

Warner Robins, GA
David & Brandi Voltz


Cleveland HUGS Fundraiser 

August 16, 2014

Wesley Memorial United Methodist Church
Cleveland, TN
Robert Lee


Friends of DBA Golf Outing 
September 15, 2014 
Fox Meadow Golf Club
Medina, OH 
Jim & Carol Mancuso


Friends of DBA 5K / 1 mile Walk 
October 4, 2014
Fox Meadow Golf Club
Medina, 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


Wristbands Available 
Twila Edwards





Tribute Cards Available
(3 Styles)
In honor of...
In memory of...
Holiday giving...
Dawn Baumgardner 
  donation donation
5" x 5" Decals Available
Dawn Baumgardner 
  window sticker

7" x 5" Decals Available
David Voltz
Cure DBA decal_Voltz.  
Cookbooks Available  
Betty Lightner  
To order online, visit:
cookbook cover  


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!   


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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 More Research
Award Given to Dr. Vijay Sankaran

The Diamond Blackfan Anemia Foundation (DBAF) is proud to support the very important work of Vijay G. Sankaran, M.D., Ph.D. of Boston Children's Hospital. The DBAF has provided $36,000 to fund Dr. Sankaran's research project entitled, Defining GATA1 Transcriptional Alterations in Diamond-Blackfan Anemia.

Aoi Wakabayashi, Vijay Sankaran, MD, PhD, Anindita Basak

In addition to his clinical responsibilities, Dr. Sankaran is an outstanding investigator and was a leader in the studies leading to the discovery of GATA1 as a DBA gene.  He has since shown that ribosomal protein haploinsufficiency affects GATA1 expression, tying together the two seemingly disparate themes emerging in DBA. (Please see Steve's Journal Club article below.)

It has been known for many years that GATA1 is a transcription factor required for erythroid development.  It is responsible for turning on and off the expression of genes required for hematopoietic stem cells to differentiate along the erthroid lineage.  In contrast to the ribosomal protein genes, the finding that GATA1 is affected in certain DBA patients makes a great deal of sense in terms of the clinical phenotype observed in DBA.  Many investigators over the years have examined genes regulated by GATA1.  In this funded research project, Dr. Sankaran plans a similar strategy, but will do this in a system specifically designed to identify genes that GATA1 regulates during erythroid development. Understanding genes controlled by GATA1, specifically during erythroid development, could give insight into what goes wrong in patients, and consequently, could lead to improved treatments.

Dr. Sankaran stated, "As a physician-scientist, I care for children with Diamond-Blackfan anemia and our laboratory works to better understand the reasons that red blood cell production is impaired in this condition. Our laboratory is truly grateful for this award from the DBA Foundation, particularly since it comes from the families whose children and loved ones have DBA and who serve as inspiration for our work. We are truly grateful for all the support we have received from the DBA Foundation to pursue our work, including the identification of GATA1 mutations in DBA. Our laboratory has recently shown that the more common ribosomal protein mutations found in DBA impair GATA1 translation and thereby affect the activity of this factor. This award will allow us to better understand the role of GATA1 in the altered red blood cell production observed in DBA. We ultimately hope that this work will lead to targeted strategies to boost GATA1 production and thereby treat the impaired red blood cell production in DBA."


Mother's Day to Father's Day Celebration Success
YOU Made it Happen
We are so grateful to the individuals and families that support the fundraising_100.gifmission of the Diamond Blackfan Anemia Foundation. We could not do what we do without YOU! Last month we featured a research project we funded being conducted by Dr. Daniel Finley's laboratory. This month, you can read about Dr. Sankaran's project. Next month, you will read about the continuing funding provided to Dr. Lodish. All proposals received by the DBAF are peer-reviewed for scientific merit and budget justification. We are proud to fund these approved projects and YOU make it happen!

The last successful fundraising venture was the Mother's Day to Father's Day Celebration Campaign.  We set a goal and once again, our faithful families and friends exceeded that goal. Check out the final total and those that contributed to this campaign on our online fundraising page

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. Thank you for your careful consideration. Donate today or Become a monthly donor! Visit our website
DBA Mom Could Earn DBA Research Dollars
Help with Your Facebook Vote!
We are so thrilled that DBA Mom and the Executive Director of DBA Canada has been chosen to be one of 20 finalists from over 12,000 nominees in Walmart's Canadian Mom of the Year!  Janet Pereira is currently in the lead and if she can stay there she will win at least $10,000 for DBA Canada.  As you know, DBA Canada and the DBA Foundation work closely and have funded many research projects together. Please help Janet secure these funds for DBA Canada! Facebook users, please check it out and VOTE HERE.  Voting ends 7/4/2014 and you can only vote once. Feel free to share on your Facebook Wall! 
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 Logooff 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

The Factor Fugue


Steve Ellis
Steven R. Ellis, PhD
DBAF Research Direc

Each Easter at Bardstown Road Presbyterian Church the congregation finishes off the service with rousing, if somewhat chaotic, rendition of Handel's Hallelujah Chorus.  For historical reasons unbeknownst to me, the sheet music we are provided for this chorus is not only antiquated but also written in four-part harmony for professionals.  I've never seen so many notes on a single page.

Undaunted, and wishing to participate because I am caught up in the moment, I decide on the bass voice since it seems to have fewer notes and words.  As we are a small church and we don't have strong singers in each voice category, those of us choosing more under-represented voices are left on our own with no one's coattails to cling to.  I start off reasonably well but things rapidly turn south when each category goes its own way and I am left to my own devises.  Fortunately, every now and again, we are all brought back in register, "e.g., the kingdom of this world" and for the time being anyway, I am back on track.

I'm not entirely sure why, but my muddling through the Hallelujah chorus was the analogy that sprang to mind when I began considering a Journal Club having to do with human development.  When sperm joins with egg, the process of human development begins; a process infinitely more complex than the Hallelujah chorus, but one that is played out at different levels simultaneously, with a myriad of individual notes, all of which have to come together in sync to produce a new human being.

So let's consider human development starting at the beginning, with the fertilized egg.  The instructions for what will become a human being are embodied within the 3.5 billion bases pairs of DNA packaged on 46 chromosomes, half coming from mom and half coming from dad.  The fertilized egg, a single cell, will ultimately give rise to the 50 or so trillion cells of the human body.  Some of these cells become the rods and cones of the eye and give us vision, whereas others become precursors to red blood cells; the latter we all know, being charged with transporting oxygen through the blood.  And these are just a small sampling of the potential fates of the trillions of cells arising from the original fertilized egg.

So what differentiates one cell's fate from another during human development?  Does each cell type receive a different set of instructions?  The answer to this, at least from my perspective, is yes and no.  The written instructions laid down in the sequence of bases for in those 3.5 billion bases of DNA, with certain rare exceptions, are the same in all cells of the body regardless of whether they are a cell of the eye or the bone marrow.  What differs from one cell to another are how these instructions are interpreted.

Major players tasked with interpreting the instructions laid down in the sequence of DNA are a tremendously important family of proteins referred to as transcription factors.  Transcription is the process by which DNA is converted into RNA.  RNA, in turn, is used to program ribosomes for the synthesis of proteins.  It is the constellation of proteins synthesized within a cell that by in large give it its defining characteristics.  So cells differentiate into a particular cell type by turning on genes to make one set of proteins while turning off genes coding for other sets of proteins. The decisions as to which set of genes to turn on and those to turn off are controlled in large part by transcription factors expressed in different cell types.  As to what determines which transcription factors are expressed in a particular cell type, well, other transcription factors, a point I will return to later.

This discussion brings us to a very interesting review recently published in Blood by John Crispino and Mitch Weiss1, two physician scientists that attended this year's DBA ICC Meeting.  The title of their review was "Erythro/Megakaryocytic Transcription Factors Associated with Hereditary Anemia."  This review, as the name implies, summarizes transcription factors that to date have been linked to hereditary anemia and suggests that additional transcription factors necessary for erythropoiesis may be encoded by some of the still unidentified genes responsible for congenital anemia, including DBA.


Amazon Shoppers... This One's For You!
Donate while you shop
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!  

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