California Pizza Kitchen offers a delicious and easy fundraiser for not-for-profit organizations. When you partner with CPK to host a "DBA Pizza Day," 20% of all purchases generated will go directly to the Diamond Blackfan Anemia Foundation to support Diamond Blackfan Anemia
patients... families... research.
For more details on this program and to find out how you can get involved, please call the Manager of your local CPK or Dawn Baumgardner.
The North Shore Mamas are sponsoring a DBA Day at the Huntington Station, NY pizzeria on April 11, 2011 in honor of three local DBA patients. Present the flyer when purchasing your eat-in, take-out, or catering orders and 20% of your check will be donated to the DBAF!
To download the flyer, visit our website or click here: http://dbafoundation.org/documents/DBACPK.pdf
We are extremely grateful and proud of our families' and friends' accomplishments and commitment to funding research for Diamond Blackfan Anemia.
MANY THANKS TO THE
NORTH SHORE MAMAS!
California Pizza DBA Day
April 11, 2011California Pizza KitchenHuntington Station, NYDownload a flyer from our website www.DBAFoundation.orgDBA 5K Walk/Run
April 23, 2011
Republic Parks & Recreation Center
Jacob & Scarlett Buckmaster
DBA Family Day - Washington
April 30, 2011
Seattle Children's Hospital
Friends of DBAF Golf
Outing & Silent Auction
September 17, 2011 Cherokee Hills Golf Club
Valley City, Ohio
Jim and Carol Mancuso
Tribute Cards Available (2 styles)
In honor of...
In memory of...
DBA Cookbooks Available
To download your order form:http://issuu.com/bhivemom/docs/cookbook_order_form-pdf
Good Search/Good Shop
Raise money for DBAF just by searching the web and shopping online!
|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. Contact us at DBAFoundation@juno.com.|
| Using Your Dollars Wisely
The Board of Directors of the Diamond Blackfan Anemia Foundation takes our responsibility to you, our families, very seriously. Every donation received by the DBAF is appreciated, and our promise to you is to be good stewards of the money you have generously donated or raised. Below is a description of the DBAF's grant review guidelines. We are proud of our rigorous review process and confident that you will appreciate the efforts taken to ensure that your money is being used prudently and responsibly.
Currently, the DBAF has four proposals out for review and are awaiting two additional requests. We hope that our families will recognize the importance of their support in helping to fund the approved projects. If not us, the families, then whom?
DBAF's Grant Review Process
- Awareness that funds to support research on DBA are available from the DBAF
The best source of information is the DBAF website, which not only includes a description of research currently being supported, but also provides detailed instructions for submitting a proposal to the DBAF. Researchers also hear about available funds through word of mouth at scientific meetings. The phrase "research supported by the Diamond Blackfan Anemia Foundation" is frequently heard in talks on DBA presented at international scientific meetings like the American Society of Hematology. Similar acknowledgments are included in research publications stemming from DBAF support.
- Submission of a proposal for research support to the DBAF
Investigators create a proposal using guidelines available from the DBAF website and submit the proposal to both the DBAF's Research Director and Executive Director. Both hard copies and electronic versions of the proposals are submitted.
- Proposals sent out for review by experts in the field
Once the proposals are received by the Research Director, the review is initiated by sending out e-mails to clinicians and scientists asking if they would be willing to review a manuscript for the DBAF. Abstracts of the proposals are included in this correspondence so the potential reviewers can assess whether they are qualified to review in the subject area. It should be pointed out that the reviewers give of their time and expertise without financial compensation. In general, two to three reviews are obtained for each grant.
Once the reviews are returned, the Research Director writes a summary of the reviews which is sent along with the reviews to members of the DBAF Board.
The Board generally meets four times per year at which times the reviews are discussed and funding decisions are made. The Board's discussion may not only include whether or not to fund the proposal but also whether the proposal should be funded in full or if cuts in the budget should be considered. After the discussion, a motion is made to support or deny funding, and if the decision is to support funding, the Board determines the level of funding that will be awarded.
- Communication of Board decision
Once a funding decision is made by the DBAF Board, the Research Director communicates this decision to the investigator submitting the proposal. Any budget reductions requested by the Board are discussed with the investigator and once there is agreement on the level of funding, arrangements are made to send the funds from the DBAF to the institution where the investigator submitting the proposal is employed.
- Research supported by the DBAF
In addition to awards made to scientists working within the United States, grants have been awarded to investigators in England, France, Sweden, Italy, and Canada. The international nature of these awards is important because for a rare disease like DBA, there are typically too few researchers in a single country to truly push research forward. A listing of research projects funded by the DBAF can be found on the website.
To maintain the momentum of the past years towards gaining a better understanding of the molecular basis underlying DBA and, more importantly, to begin to translate these discoveries into better treatments options, the DBA Foundation needs your support now more than ever.
Take the Challenge ~ Show Us Your Logo
T-shirts, hats, coffee mugs, face paintings, tattoos, bags, pumpkins ... our logo is showing up everywhere! We are thrilled that our beautiful logo is proudly being worn and displayed by patients, families, and friends.
This month our logo went international. Paula Bourgeois of Kitchener, Ontario, Canada celebrated her son's birthday with a new tattoo. Great looking tattoo, Paula, and a very happy 16th birthday to Robert!
Here's the challenge: we'd 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.
The DBAF Congratulates the DBAC
The Diamond Blackfan Anemia Foundation (DBAF) extends our sincerest congratulations and warmest welcome to Diamond Blackfan Anemia Canada (DBAC). The DBAC has officially received their registered charity status and has joined the worldwide effort to support DBA patients and research. We look forward to working closely with our Canadian friends.
To contact DBA Canada, email Janet Periera (firstname.lastname@example.org) or Jenn Morrison (email@example.com). Congratulations & welcome!
Where Are You Now?
Help us to help you! Some information is best delivered to your home address. We are currently in the process of verifying our patients' and families' contact information. If you have not yet done so, please take a moment to visit our secure website and complete the registration form. This information will allow us to keep you updated and informed. Thank you for your cooperation. http://www.dbafoundation.org/registration.php
If you have any questions regarding the status of your information, please contact Dawn Baumgardner at DBAFoundation@juno.com.
| Steven R. Ellis, PhD|
So what's the deal with red cells and ribosomes? Red cells don't even contain ribosomes! So why is it that that the defect in ribosome production seen in DBA patients preferentially affects red cells? Well, of course, the answer resides in that it is not red cells per se that are affected in DBA, but instead the red cell progenitors in the bone marrow that give rise to red cells. And yes, these progenitors have ribosomes. In fact, they are thought to have lots of ribosomes. These red cell progenitors proliferate rapidly, and cells that proliferate rapidly need lots of ribosomes. This is because for a cell to divide it must also grow, and for cells to grow, they need more ribosomes than a cell that is not growing. The increase in ribosomes is needed to synthesize the proteins that copy DNA, make cellular membranes, provide energy, and darn near everything else it takes for cells to make new cells. But, aren't there a fair number of other cell types in the human body that grow and divide rapidly, and if so, why aren't they affected in DBA? These are questions that have been puzzling the DBA research community since the discovery of RPS19 as the first DBA gene back in 1999 (Draptchinskaia et al, 1999).
Which brings us to this month's "Journal Club" paper. In a recent issue of Blood, Ebert and colleagues make inroads into explaining the selective effect of ribosomal protein mutations on red cell production (Dutt et al). Their studies were built upon a number of recent observations indicating that the tumor suppressor p53 plays an important role in promoting the death of cells lacking sufficient amounts of ribosomal proteins. In their study, the Ebert group took human CD34+ hematopoietic progenitor cells (that were either normal or expressed reduced amounts of Rps19) and induced these cells to differentiate along the erythroid or other myeloid lineages. Intriguingly, they found that p53 was selectively activated in cells differentiating along the erythroid lineage. These observations would therefore seem to recapitulate some of the tissue specific hallmarks which define DBA. Moreover, the authors show that the impaired erythroid differentiation induced by ribosomal protein haploinsufficiency can be rescued by an inhibitor of p53 function. While this latter observation has certain therapeutic implications for DBA, it should be pointed out that the use of drugs that target what is generally thought of as the major tumor suppressor in human cells would likely entail unacceptable cancer risks. Although there are certain caveats to the Ebert study and many important questions remain regarding the preferential sensitivity of the developing erythron to mutations in ribosomal protein genes, this manuscript nevertheless represents a very exciting development in the field.
Recently, a colleague of mine sent me a manuscript that he felt may shed additional insight into the results reported by the Ebert group. This colleague has insisted time and time again that heme toxicity may ultimately be responsible for the clinical features of DBA. The manuscript he brought to my attention shows that proptoporphyrin IX binds to and activates p53 (Zawacka-Pankau et al, 2007). Now you may recall that last "Journal Club" I mentioned that there are investigators who feel that a defect in ribosome synthesis would likely reduce levels of globin chains and cause heme to build up in red cell progenitors. Well, protoporphyrin IX is heme without the iron, so if heme like protoporphyrin IX were to bind and activate p53, well, then you may have the smoking gun that provides the erythroid specificity of DBA. This, as in all of my musings, involves a lot of "ifs". Nevertheless, experiments such as those described by Ebert and colleagues transform "ifs" like these into a deeper understanding of the complex physiological aspects of DBA - which we all hope will create new avenues for treatment.
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 21(2): 169-175
Dutt S, Narla A, Lin K, Mullally A, Abayasekara N, Megerdichian C, Wilson FH, Currie T, Khanna-Gupta A, Berliner N, Kutok JL, Ebert BL Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood 117(9): 2567-2576
Zawacka-Pankau J, Issaeva N, Hossain S, Pramanik A, Selivanova G, Podhajska AJ (2007) Protoporphyrin IX interacts with wild-type p53 protein in vitro and induces cell death of human colon cancer cells in a p53-dependent and -independent manner. J Biol Chem 282(4): 2466-2472