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February 2012                                                                                         Volume 17
In This Issue
The "Write" Stuff
National Family Meeting
NEW Clinical Trial Opportunity
"Stay on Your Kids"
Show Us Your Logo!
Journal Club
The "Write" Stuff
cure dba sand

 

In December, DBA families received a letter in the mail requesting your participation in an important fundraising campaign. Thank you to the families that have responded with their personal donations, and thank you to the families that have made a monthly pledge  or requested letters to send to their friends and families.   

 

We need your help. This letter writing campaign is an easy way to help raise funds for critical DBA research projects. Preprinted, full color letters and envelopes have been created for you. Simply sign the letters and mail to your contacts.  It's quick and easy! 

 

We are excited about the progress being made in understanding DBA and we appreciate your efforts to help support our mission.

 

Please consider partnering with us to help find a cure for DBA. I am happy to answer any questions you may have regarding this campaign or the DBAF. If you did not receive the letter or have recently moved, please complete a registration form. This form will insure you receive future DBA newsletters and important mailings. 

 

I look forward to hearing from you soon! 

Warmly,
Dawn Baumgardner

dbaumgardner@dbafoundation.org

716.674.2818 

 

Upcoming Events

 

 
DBA Support Group 
March 21, 2012
New Hyde Park, NY
Contact:
Ellen Muir
emuir@nshs.edu
1.877.DBA.NURSe 

 

  

DBA Craft Sale & Blood Drive
March 23, 2012 
Lillian Schumacher Elementary School
Liberty, MO 
Contact: 
Lea Ann Soto
mustangsoto@hotmail.com
 

  

DBA Bowling Fundraiser
April 21, 2012 
Grand Haven, MI
Contact:
Tammi Lanore
jjlanore@frontier.com  


DBA Family Fun Day 
May 19, 2012 
Buffalo, NY 
Contact: 
Scott & Becky Kozlowski
716.863.8082
Rebe_20@hotmail.com  


Marine Corps Half Marathon
 
May 20,2012
Fredericksburg , VA
Contact:
Tami Luddy
tamiluddy@yahoo.com
  
 
DBA Family Meeting 
July 8 - 13, 2012 
Camp Sunshine
Casco, ME 
Contact:
Dawn Baumgardner
dbaumgardner@dbafoundation.org 

 
Friends of DBAF Golf Outing
& Silent Auction  
September 15, 2012 
Cherokee Hills Golf Club
Valley City, OH
 
Contact: 
Jim & Carol Mancuso 
c-mancuso@sbcglobal.net
 
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.
 
Contact:
Dawn Baumgardner
dbaumgardner@dbafoundation.org
716.674.2818


Wristbands Available 
Contact:
Twila Edwards
twilak@cox.net
 
 
 
Tribute Cards Available
(2 styles) 
In honor of...
In memory of... 
Contact:
Dawn Baumgardner
dbaumgardner@dbafoundation.org
716.674.2818
donation donation 


Cookbooks Available 
 

Contact:
Betty Lightner
betty.lightner@gmail.com
To order online, visit:
cookbook cover
 
 
Good Search/Good Shop
Raise money for DBAF 
just by searching the web and shopping online! 

Quick Links
 

 
 


Like 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 DBA Foundation is YOUR Foundation!  We encourage you to share your ideas, photos, and stories for our website and upcoming newsletters.  Contact DBAFoundation@juno.com.

Family Meeting at Camp Sunshine

camp logo

 

The Diamond Blackfan Anemia Foundation, Inc. (DBAF) is proud to announce our eighth national family retreat. This retreat will take place during the week of  July 8-13, 2012 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.

 

The prospects of this week have many potential benefits. The time spent here will afford you and your family the opportunity to meet other families that have been affected by this disorder thus validating the DBA Foundation's mission "...to share this knowledge, to inform, to lend support, and to communicate with all families of DBA patients."  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 benefit 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 www.campsunshine.org.  (Applications will be available soon.)

 

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 Baumgardner at 716.674.2818.

 

We are looking forward to seeing many of you this summer!

Clinical Trial Announcement

announcement
We are pleased to announce a new clinical trial opportunity for adult DBA patients.

 

The trial entitled, Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia is currently enrolling patients. The purpose of this study is to determine the safety and dosing of the drug Sotatercept, as a subcutaneous injection, to stimulate production of red blood cell production. Complete information and contact information is available at 
 

"Stay on Your Kids"   
(submitted by Nancy Barbach, LCSW) 

 

Our inaugural group for older adolescents, youngCohens logo

adults and parents of children with DBA was held at Cohen Children's Medical Center of New York in late November.  As the parents of the younger children noticed a young adult enter the room, conversation quickly turned towards him! The parents of the younger children were eager to hear what our young adult had to say about his experience living with DBA.    


While he spoke about his unique experience, our parents asked him what singular words-of-advice he thought important to convey.  "Stay on your kids," he exclaimed!  He clarified that their children would not always want to take their medicines, or to go to the hospital for their transfusions, or do their chelation, so they would need help to overcome their resistance. Given his own experience, he emphasized that there may be periods in their lives such as adolescence, where they want so much to be "like the other kids," that they may behave as if they don't have DBA.  Simply put: kids can't always do it on their own.  They need their parents to "stay on top of them."  They may not let you know that they need you, and they may tell you that they don't need you... but they do. 


Finally, the group of parents asked what he would like to tell his own parents at this point.  "Thank you," he said, "for all the efforts made to get proper care and medical attention over the years."

 

Our next group is scheduled for March 21st! Questions?  Want to join us? Please contact Nancy Barbach, LCSW at 718.470.3286 or Ellen Muir, RN at 1.877.DBA-NURSe.

 

Show Us Your Logo!    

 

Luddy Plunge

It's Show Us Your Logo seven times this month! Together, the Luddy family of Vienna, VA took the ice cold plunge into Lake Anne, Veston, VA., while 2 year old DBA patient, Eliza, loved getting her little feet wet in the Chicken Dip!  Hand in hand, mom, dad, brother, sisters, and cousins participated in the Virginia Polar Dip to raise money to send a DBA family to Camp Sunshine this year.  The Luddy family attended Camp Sunshine for the first time in 2010, and Tami (mom) stated, "For our children and for us, Camp Sunshine is where we learned to be fighters, to have hope, to reach out to others in need, and to never give up."

Many thanks to the Luddy family for "freezin for a reason!"  Tami will continue her fundraising efforts for the DBA Foundation in May when she will be running the Marine Corps Historic Half Marathon!

 

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... 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 DBAFoundation@juno.com.  
 
DBAF's Monthly Journal Club

Steve Ellis
Steven R. Ellis, PhD
DBAF Research Director 

 A model organism as defined from the web is: "a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the organism model will provide insight into the workings of other organisms," particularly humans, and of particular relevance to readers of this column, patients with DBA.  Over the years model organisms used in DBA research include yeast (yes, yeast), zebrafish, and most recently, several mouse models.  In this Journal Club however, I would like to focus on the cat, or at least cats infected with the feline leukemia virus subgroup C (FeLV-C). 

 

Cats infected with FeLV-C come down with a severe anemia because of an arrest in red cell development at the level of the colony-forming unit (CFU-E)/proerythroblast stage 1.  Moreover, this developmental arrest is specific to the erythroid lineage, in that it does not affect megakaryocytes and other myeloid cells despite the fact that their progenitors are also infected.  If all this sounds remotely familiar, it should; in many ways this pure red cell aplasia parallels DBA. 

 

For FeLV-C to infect cells of the cat bone marrow it must bind to a protein on the cell surface called the feline leukemia virus subtype C receptor (FLVCR).  Viruses and other pathogens often make use of normal proteins on a cell surface to identify and gain entry into a particular cell type.  Several lines of evidence suggested that when the FeLV-C virus interacts with the FLVCR receptor, it disrupts the normal function of the receptor, which in turn gives rise to the selective effect on red cell development. 

 

These observations then begged the question as to what the normal function of the FLVCR protein was in erythropoiesis.  The gene for FLVCR was cloned and sequenced in the late 90's and was shown to encode a member of a family of proteins that export heme from cells 2,3.  In 2008, the Abkowitz lab showed that deletion of the FLVCR gene in one-week old mice recapitulated the effect of a FeLV-C virus infection in terms of specifically arresting red cell development 4.  Interestingly, FLVCR is upregulated at the CFU-E stage in red cell development suggesting that red cell progenitors at this stage of development may have a critical need for a heme exporter, and without FLVCR perhaps these progenitors succumb to some form of heme toxicity.  This concept is appealing from the perspective of DBA pathogenesis because if the synthesis of globin chains was affected by mutations in RPS19 and other ribosomal proteins known to give rise to DBA, perhaps free heme accumulates and overwhelms normal levels of FLVCR triggering progenitor cell death due to heme toxicity, secondary to effects on ribosome synthesis and globin production.  Further, it seemed reasonable to postulate that FLVCR itself might be a DBA gene.  To date, however, no mutations in FLVCR have been reported in DBA patients 5

 

So is this the end of the story for FLVCR, at least as it pertains to increasing our knowledge of DBA pathogenesis?   Perhaps not!  Rey et al showed that hematopoietic progenitor cells from DBA patients with mutations in RPS19 had reduced expression of FLVCR protein because of aberrant RNA splicing 6.  RNA splicing is horrendously complex process by which pieces of genes are hooked together to give mRNAs that can be translated into functional proteins.  While this process increases that repertoire of protein products that can be synthesized from a single gene, defects in the process have been linked to human disease including splicing site mutations in genes encoding ribosomal proteins in 

DBA 7.  Rey et al proposed that perhaps a protein required for normal splicing of FLVCR was critically sensitive to the effects of RPS19 haploinsufficiency on ribosome synthesis.  Consequently plausible models of how FLVCR may still be involved in DBA pathogenesis remain on the table. 

 

One other factor that may be relevant to our discussion of FLVCR is the relatively severe consequences of iron overload in DBA patients 8.  As heme and iron toxicity go hand in hand, patients already sensitive to the effects of heme toxicity due to reduced expression of FLVCR may be exquisitely sensitive to excess iron accumulating in the body as a consequence of being transfusion dependent.  Thus, the persistence of investigators working on FLVCR may ultimately be rewarded by more complete understanding of DBA pathogenesis.

 

  

1.             Khan AA, Quigley JG. Control of intracellular heme levels: heme transporters and heme oxygenases.Biochim Biophys Acta. 2011;1813(5):668-682. Prepublished on 2011/01/18 as DOI 10.1016/j.bbamcr.2011.01.008.

2.             Quigley JG, Burns CC, Anderson MM, et al. Cloning of the cellular receptor for feline leukemia virus subgroup C (FeLV-C), a retrovirus that induces red cell aplasia. Blood. 2000;95(3):1093-1099. Prepublished on 2000/01/29 as DOI.

3.             Tailor CS, Nouri A, Lee CG, Kozak C, Kabat D. Cloning and characterization of a cell surface receptor for xenotropic and polytropic murine leukemia viruses. Proc Natl Acad Sci U S A. 1999;96(3):927-932. Prepublished on 1999/02/03 as DOI.

4.             Keel SB, Doty RT, Yang Z, et al. A heme export protein is required for red blood cell differentiation and iron homeostasis. Science. 2008;319(5864):825-828. Prepublished on 2008/02/09 as DOI 10.1126/science.1151133.

5.             Quigley JG, Gazda H, Yang Z, Ball S, Sieff CA, Abkowitz JL. Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia. Blood Cells Mol Dis. 2005;35(2):189-192. Prepublished on 2005/07/06 as DOI 10.1016/j.bcmd.2005.01.005.

6.             Rey MA, Duffy SP, Brown JK, et al. Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.Haematologica. 2008;93(11):1617-1626. Prepublished on 2008/09/26 as DOI 10.3324/haematol.13359.

7.             Boria I, Garelli E, Gazda HT, et al. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat. 2010;31(12):1269-1279. Prepublished on 2010/10/21 as DOI 10.1002/humu.21383.

8.             Roggero S, Quarello P, Vinciguerra T, Longo F, Piga A, Ramenghi U. Severe iron overload in Blackfan-Diamond anemia: a case-control study. Am J Hematol. 2009;84(11):729-732. Prepublished on 2009/10/08 as DOI 10.1002/ajh.21541.