Issue: # 28 
March 2013 
In This Issue
2013 Family Meeting
It's All in the Genes
Important Message
Show Us Your Logo
Like Us and Follow Us
Important Announcement
Journal Club
2012 All Star

Camp Sunshine logo
2013 Family Meeting

The Diamond Blackfan Anemia Foundation, Inc. (DBAF) is proud to announce our ninth national family retreat. This retreat will take place during the week of July 21 - 26, 2013 at Camp Sunshine  , which is located at Lake Sebago, Maine. Air carriers fly into Portland, Maine and ground transportation is provided by Camp Sunshine to the campsite.

Camp Sunshine caters to families with various medical conditions and disabilities, and a full time medical doctor is on staff. They also plan daily activities for the entire family, and offer parents an opportunity to share their experiences and exchange information. Aside from the benefits of meeting other families, we have also obtained commitments from experts in the medical field to come and share their expertise and to update us on current research regarding DBA.

In the past, 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, as well as planned activities and excellent childcare. Additional information and applications are available at our website 


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.  If you have any questions or concerns regarding Camp, please contact Dawn  at 716.674.2818.  We are looking forward to seeing many of you this summer! 

Upcoming Events
Annual Strike Out DBA 
Bowling Fundraiser
April 13, 2013 
Grand Haven, MI
Tammi Lanore  
Jack's Fight for a Cure

(to benefit DBA Canada)

May 10, 2013

Caledon, Ontario


Janet Pereira

Kevin J. Gately Foundation Golf Outing
July 15, 2013 
Black Swan Country Club
Georgetown, MA
DBA Family Meeting 
July 21 - 26, 2013  
Camp Sunshine
Casco, ME 
Dawn Baumgardner

Friends of DBAF Golf Outing
& Silent Auction  
September 7, 2013
Briarwood Golf Club
Broadview Heights, 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
(2 Styles)
In honor of...
In memory of...
Dawn Baumgardner 
  donation donation
5" x 5" Decals Available
Dawn Baumgardner 
  window sticker

Cookbooks Available  
Betty Lightner  
To order online, visit:
cookbook cover  


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
It's All in the Genes
Genetic Testing - Why it Matters
The Diamond Blackfan Anemia Foundation, Inc. has funded several "Gene Discovery" research projects over the past several years and efforts continue to identify additional mutations and deletions responsible for Diamond Blackfan Anemia. To date, approximately 60-70% of DBA cases have been associated with a known genetic mutation or deletion.

Gene discovery not only has the potential to lead to new therapeutic treatments, it is also vital to patient care. Initially it was thought that the vast majority of the DBA cases reported to the Diamond Blackfan Anemia Registry (DBAR) were sporadic, that is "a genetic disorder that occurs for the first time in a family due to a new mutation."  However, with the discovery of numerous published DBA genes, family studies have identified a higher-than-expected proportion of individuals carrying the gene mutation, without ever being anemic or requiring treatment.  These individuals may have mild, if any, hematologic manifestations with or without DBA-associated congenital anomalies. Identification, in a timely fashion, of inherited cases within a family is imperative so that appropriate reproductive and, when applicable, stem cell transplant choices can be made.  For example, asymptomatic siblings or parents can be counseled as to the risk of having an affected offspring, and asymptomatic, yet genetically affected siblings, would be identified as unacceptable stem cell transplant donors for DBA patients.
For patients and families not knowing their genetic mutation, testing is available commercially and can be ordered by your hematologist. In most cases, the testing is paid for by your insurance company (Medicaid will also be accepted for many states.). Ambry Genetics is one commercial lab that is testing for 11 known DBA genes. A complete listing of the genes, along with additional information regarding the disorder and test description can be found on their website,, Ambry Genetics has recently added the new poster,
The Ambry Genetics Experience in Molecular Diagnostic Testing for Diamond Blackfan Anemia: Our first 200 families to their website.  For additional genetic information, please see the updated gene utility card published March 6, 2013 in the European Journal of Human Genetics.  



North American DBA Families... We don't want to lose you! We want to keep you updated and informed! We need your attention!

As you know, in December 2012 our new website was introduced. Since then, numerous requests for contact information updates were made and many of you responded (thank you!). Here's the problem... there was a glitch with the new server and the forms received since December were all missing a line of information. It's finally fixed! So... we need you to please go to our website and register again. Thanks and sorry for the inconvenience.


Show Us Your Logo
Alan tattoo


Another patient proudly displays our logo... but with his own twist. Alan Saastad of Henderson, NV wanted something a little different to enhance the DBAF's logo. Alan's new tattoo incorporates a chrysanthemum (symbolizing longevity) into the traditional design. Stay tuned... Alan plans on expanding his design!


Here's the challenge: We would like to see how many places we can show off 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 and stories to

Like Us and Follow Us
window sticker


Social Media is a great way to get our message out and keep us connected. 

Please make sure you "like" us on Facebook and then help spread DBA awareneness by sharing our page and asking your friends to like us, too!

You can also find us on Twitter.  Follow us here:

Important Announcement
Research Study Needs YOU!
The DBAR has noted that many 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.
The Divisions of Pediatric and Adult Endocrinology at Cohen Children's Medical Center and North Shore LIJ Health System, respectively, in collaboration with the Diamond Blackfan Anemia Registry (DBAR) are conducting a research study to understand the effects of steroid and blood transfusion therapy on the endocrine system in patients with Diamond Blackfan anemia.  Researchers wish to compare the endocrine function of DBA patients (those receiving and not receiving blood transfusions) to patients with beta-thalassemia major who are also treated with chronic transfusions.
Eligibility Criteria:

You may be eligible to participate in this study if you are:

  • Age 1-39 years; and
  • Diagnosed with DBA; and
  • Enrolled in DBA Registry (DBAR)

You may not participate in this study if you are:

  • Pregnant; or
  • Have received a bone marrow transplant

If interested please contact Eva Atsidaftos or Ellen Muir at the DBAR at 888-884-3227 or Dr. Amit Lahoti (Pediatric Endocrinology fellow) at 516-472-3769 or 516-472-3750.  

Participation in the study involves a standard endocrine evaluation. This includes blood tests that can be ordered and drawn at your institution. In this study, we will ask for a usual endocrine evaluation on steroid dependent patients, red cell transfusion dependent patients, as well as those patients in remission. The participation consent asks for permission for the DBAR and our endocrinology collaborators to receive the endocrine evaluation results. We will hopefully be able to have some results available by this summer. Our goal is 75 DBA patients and 25 thalassemia patients total for the study. THANK YOU IN ADVANCE FOR YOUR PARTICIPATION!!!  


Journal Club

Ribosomal Proteins in the News 

Steve Ellis
Steven R. Ellis, PhDDBAF Research Director 

This month's Journal Club will focus on a manuscript recently published in the prestigious journal, Nature Genetics. The manuscript is entitled, "Exome sequencing identifies mutations in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia" (De Keersmaecker et al, 2013).  Since this manuscript deals with a topic which could have significant clinical implications for the DBA community, I thought it would be useful to recruit a physician as co-author this month and Dr. Jeffrey Lipton has graciously agreed to join me and his thoughts have been incorporated below. 


The manuscript under consideration follows recent trends in using whole

Dr. Lipton
Jeffrey M. Lipton, MD, PhD.

exome sequencing to identify the genes underlying human disease states.  This same technology was, and is, being used to identify new DBA genes where the most notable success was in identifying the GATA1 gene as the pathogenic lesion in certain DBA families.   Here the disease investigated was T-cell acute lymphoblastic leukemia (T-ALL).  This is not the first time that whole exome sequencing has been used to study human cancers.  In fact, whole exome sequencing of cancers has been all the rage in recent years and the reason for this is the enormous wealth of information gained from these studies.   Cancer cells are typically genetically unstable, so there are often many mutational changes in an advanced tumor.  This makes sorting out driver mutations (those critical in the transformation of a normal cell to a tumor cell) from passenger mutations (those that contribute little or nothing to tumorigenesis but are just along for the ride) difficult to sort out.  Some cancers, for example, chronic myelogenous leukemia have a single well-defined gene that drives tumor cell growth and are involved in most forms of this disease.  Because of this well-defined driver gene it has been possible to develop drugs that target its gene product, making it the poster child for a remarkably effective therapy for this deadly disease (Wong & Mirshahidi, 2011).  In contrast, other cancers, including T-cell acute lymphoblastic leukemia are far more heterogeneous and can be caused by mutations in a wider spectrum of genes.  Because of this heterogeneity there is unlikely to be a one size fits all therapy for these types of cancers.  Instead, by sequencing individual tumor genomes and identifying the different players involved in one tumor relative to another, physicians can take a more personalized approach to therapy specifically directed towards the drivers for a particular tumor.  Thus, there is intense interest these days in using whole exome sequencing on a tumor by tumor basis to identify such drivers for both prognostic and therapeutic decisions.

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2012 All Star Winners Announced

cc winner
Thanks for making us a 2012 Constant Contact All Star! We couldn't have done it without you! The DBA Foundation's emails and monthly enewsletters are created with our friends and families in mind, so thank you for engaging and interacting with us and helping us achieve this honor.