|The "Write" Stuff|
Although many advances have been made in understanding DBA, more needs to be done if we are to find better treatment options, and hopefully, a cure. As DBA families and friends, we have a a vested interest and a responsibility to ensure that research continues.
Our hope for a cure is research.
This year, the DBAF has received a record number of grant proposals from researchers around the world. We are excited and encouraged that DBA has caught the attention of prominent researchers. But... that means we need your support more than ever!
The DBAF is asking our families and friends to support our efforts with your personal donation and commitment. Next, we are hoping for your participation in a letter writing campaign. The DBAF has written and printed the letter for you, and will provide you with the requested number of letters and envelopes. Simply sign the letter with a personal note and mail to your friends and families. It's quick and easy! The DBA Foundation is a 501(c)(3) organization and all donations are fully tax deductible as allowed by law.
Our hope for a cure is research. Your participation in this letter writing campaign is encouraged and appreciated. The DBA Foundation is proud of our accomplishments. We realize that it is only through the commitment of our friends and families that we are able to fulfill our mission of supporting DBA patients, families, and research.
Please feel free to contact Dawn regarding this opportunity to help the DBA Foundation at email@example.com or 716.674.2818.
THANK YOU for your support!
Freezin' for a Reason
DBA Support Group
March 21, 2012
New Hyde Park, NY
DBA Bowling Fundraiser
April 21, 2012
Grand Haven, MI
Mixed Bags Designs
Use Code: 69293
Tribute Dards Available
(3 styles) In honor of...
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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 DBAFoundation@juno.com.
DBAF & DBAC Fund $125,225 Research Project
Adrianna Vlachos, MD
The DBA Foundation (DBAF) is proud to announce the funding of Dr. Adrianna Vlachos' research project entitled, A Stategic Approach to Gene Discovery in DBA. We are pleased to fund this exciting project with DBA Canada (DBAC) and appreciate their $25,000 commitment towards this $125,225 multi-centered project.
|David Bodine, PhD|
The goal of this research project is to identify genes affected in the approximately 30-40% of DBA patients where their genes have not been identified by traditional sequencing of candidate ribosomal protein genes. Dr. Vlachos, Dr. Bodine, and a strong cadre of investigators at the National Genome Institute and John Hopkins University will employ state of the art technologies to further identify genes affected in DBA patients. The investigators will use comparative genome hybridization to identify genes deleted in DBA patients that may be responsible for the disease, and interrogate the entire genome using whole exome sequencing. "We are so pleased to have DBAF's support and that of DBA Canada. We hope to continue to discover new genes and be able to genotype more and more patients," stated Dr. Vlachos.
Why it matters. 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 DBAR were sporadic. However, with the discovery of 11 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.
The DBA Foundation sincerely thanks all our families and friends that have made funding this project possible. The researchers also appreciate your efforts. Dr. David Bodine stated, " I promise to make this money count. It will allow us to move much faster in our search for DBA mutations. We are all grateful to the families and contributors for their confidence in us."
Our hope for a cure is research. Your generous donations and fundraisers allow us to fulfill our mission of supporting DBA patients, families, and research.
Show Us Your Logo!
Matthew Pulnik is at it again!!!
One of DBAF''s youngest, but most committed fundraisers, Matthew Pulnik, is going to be "Freezin' for a Reason" on January 21, 2012 at Wachusett Mountain, Princeton MA. Mighty Matthew and his "Team Lemonade for DBA" will be taking the polar plunge in water described by Wachusett Mountain as cold enough to make "grown men scream for their mommies" or the "chicken dip" (for those "too scared or too smart" to do the full plunge) to raise money for DBA families to attend Camp Sunshine this summer in Maine.
Matthew has formed a team with hopes of raising $4,000 to send two families to Camp this summer. And this is not his only DBA fundraiser. Matthew, an 11 year old from Clinton, MA has more fundraisers planned for the coming months. How lucky are we DBA families to have young Matthew Pulnik in our corner!!! For more information, visit his fundraising page.
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
Steven R. Ellis, PhD
DBAF Research Director
San Diego, California, December 10-13, 2011
The American Society of Hematology (ASH) held its annual meeting highlighting recent advances in all areas of hematology. Readers of this newsletter will be encouraged to know that Diamond Blackfan anemia took front and center at this year's meeting with its approximately 20,000 attendees from around the world. Many who know me are aware that I am prone to hyperbole when trying to make a point, so one could fairly ask whether my statement that DBA took front and center at this meeting of so many prominent hematologists may be somewhat of an overstatement. I'll leave this judgment up to you as I relay the events of the past few days.
Saturday, December 10th
The first day of the ASH meeting is filled with education and scientific programs. The topics discussed in these programs are selected by various committees within ASH and are intended as relatively general 20-30 minute talks on topics deemed particularly important or exciting in the past year. The scientific program, as its name implies, tends to be more basic science oriented and this year's list of scientific program sessions began with a session at 7:30 AM entitled, "p53, ribosome, and Diamond Blackfan anemia." Yes, you read that correctly, 7:30 AM on a Saturday morning. So after shaking off a little jet lag and some minor foul ups with the busses bringing members in from hotels all over the San Diego metropolitan area, I found myself running down Harbor Drive weaving in and out of hematologists packing the sidewalks, recalling the old Avis commercial with O.J. Simpson running through an airport, in the hopes that I might not miss this first session. While I arrived approximately 10 minutes after the session began, I was nevertheless able to hear much of a talk from Dr. Harvey Lodish, a world renowned expert on erythropoiesis who in the past few years has developed an interest in DBA. This talk highlighting recent research in erythroid development introduced the audience to a new class of molecules important for erythropoiesis emphasizing again why the Lodish laboratory has been on the forefront of red cell research for many years. This talk was followed by a report from Dr. Stefan Karlssonon his creation of a new mouse model of DBA which was a remarkable feat of genetic engineering. This mouse promises to be one of the best animal models of DBA so far developed filling an important void in the DBA research world. The session ended with a talk from Dr. Gigi Lozano, an accomplished researcher in the cancer field, who talked about her recent work on the role of the p53 tumor suppressor protein during hematopoiesis. There was at least one major surprise presented by Dr. Lozano which prompted Dr. Jeffrey Lipton to state during the question and answer period that Dr. Lozano can expect to have a number of new friends from the DBA field.
Editorial note - my descriptions of the actual research presented during the sessions is necessarily vague since speakers often present unpublished research making it inappropriate for me to discuss their work in detail within this forum.
After leaving this scientific program many interested in the DBA field rushed the half mile or so to the San Diego Hyatt to attend the education program on "Understanding and Management of Inherited Bone Marrow Failure Syndromes." The highlight of this session from a DBA-centric view was a talk from Dr. Sarah Ball where she provided an update relating to the management of DBA. I found that Dr. Ball really captured why DBA figured so prominently in this year's ASH meeting with the following quote from her talk. "The floodlights of science have brought it (DBA) into the public gaze."
Having said this, Dr. Ball was quick to point out that this explosion of science in the DBA field has yet to lead to new treatments. Rather than leave us with this rather downbeat assessment, she stated that the relationship between science and clinical application in DBA can be considered a glass half full that was filling all the time. I certainly agree with Dr. Ball's optimistic assessment and I hope I will be able to convince you why with further conference highlights discussed below.
Sunday, December 11
With the bus crisis sorted out, I was able to make the 7:00 AM Grassroots Network Breakfast which is intended as a forum for ASH's advocacy efforts to communicate the importance of hematology research and clinical affairs to Congress and the White House. This year's speaker at the breakfast was Ms. Marie Arturi, director of the Daniella Maria Arturi Foundation who spoke on their efforts and successes in promoting DBA research and awareness in Washington. Among the outcomes of this advocacy were programs developed by the National Institutes of Health and Department of Defense to support research on DBA and other bone marrow failure syndromes, public health outreach and surveillance programs developed by the Center for Disease Control, and the creation of clinical resource centers for DBA across the nation.
The education and scientific programs continued Sunday morning and afternoon, and while there were no other programs specifically devoted to the inherited bone marrow failure syndromes, DBA was mentioned in other sessions I attended on iron metabolism and the myelodysplatic syndromes.
The various education and scientific programs took a break Sunday afternoon so attendees could attend a plenary session where a number of ASH awards were given out and talks were given by individuals whose abstracts were selected as best from the thousands of abstracts submitted to the meeting. I would estimate that somewhere between 5 and 10,000 people attend these sessions where this year DBA figured prominently. Ms. Arturi received an ASH public service award for outstanding "behind the scenes" leadership in areas relevant to the mission of the society. Her acceptance speech highlighted the importance of continued efforts to understand the molecular basis of DBA and translate these efforts to improved patient care. Also of note, Dr. David Nathan received the Wallace H. Coulter Award for Lifetime Achievement in Hematology. Dr. Nathan has carried out exceptional work in the hematological field including the development of the first successful treatment for iron overload. In addition to his own work in the inherited bone marrow failure field he has trained some of the most prominent physicians/scientists in the DBA field including Drs. Jeffrey Lipton and Blanche Alter.
The next phase of the ASH meeting was a series of concurrent symposia on various topics where shorts talks were given by individuals whose abstracts were selected for oral presentations. Additional research was presented at poster sessions held on Saturday, Sunday and Monday evenings. I believe there were over 4,000 posters presented at this year's meeting, and no, I didn't view them all. There were however, several posters on DBA-related research many of which will likely be the topics of future Journal Clubs.
Monday, December 12
Monday saw the concurrent symposia continue. Again the day was broken up by special lectures for all attendees. The E. Donnall Thomas lecture Monday morning was given by Dr. George Q. Daley who discussed his work on induced pluripotent stem cells (IPSCs). Interestingly, to demonstrate how these cells could be used to study the pathophysiology of human disease and develop new treatments for genetic disorders, Dr. Daley used our sister inherited bone marrow failure syndrome Shwachman Diamond syndrome as an example, but also mentioned his ongoing efforts in developing IPSCs for DBA research.
Monday afternoon included a session on bone marrow failure in Diamond Blackfan anemia and paroxysmal nocturnal hemoglobinuria. This session included 3 talks on DBA. The first was by Pekka Jaako from Stefan Karlsson's laboratory who provided additional details on their mouse model of DBA including the effects of leucine in ameliorating the anemia observed in these mice. This was followed by a talk from Tracie Goldberg from Dr. Johnson Liu's laboratory who spoke on p53 activation and subsequent effects on developmental programs in a mouse embryonic stem cell model of DBA. The last of the DBA talks in this session was from Jessica Moetter who spoke on gene discovery in DBA patients in the German DBA registry. While no new genes were reported, they did identify a number of genes through deletion analysis indicating that DNA sequence analysis alone is insufficient for identifying genes affected in DBA patients.
Tuesday, December 13
I began this note by stating that I hoped to convince you that DBA was front and center that this year's ASH meeting. I think I've covered the front and center, but what I neglected to mention was that DBA also figured prominently at the end of the meeting. Now I have to admit that I flew out early Tuesday morning so was unable to attend the Presidential Symposium on Bone Marrow Failure Syndromes. But had I attended, I would have heard Dr. Ben Ebert's talk on ribosome dysfunction as a cause of bone marrow failure. Dr. Ebert's recent work relevant to DBA has been discussed twice in newsletter articles this year so you can bet that DBA figured prominently in his talk.
The presence of DBA in many high profile talks at this year's ASH meeting brings me back to Sarah Ball's quote "The floodlights of science have brought it (DBA) into the public gaze." Certainly the science surrounding the underlying basis of DBA has caused it to be elevated in the hematological public's eye seemingly disproportional to the number of people affected by this rare disease. The reason for this scientific interest is evident in Ben Ebert's work where he has shown that 5q- a subtype of myelodysplatic syndrome can be considered an acquired form a DBA. This has caused others in the MDS field to look more closely at ribosome synthesis, where is may be involved in other forms of this disease as well. The importance of the spillover of DBA to the MDS field is that the MDS field is much larger and brings additional investigators and resources to topics relevant to DBA. Of particular importance in this regard is in therapeutic development. MDS typically affects individuals in the 60s and 70s and affects a much larger number of people than DBA. This provides a much larger patient population willing to participate in clinical trials of new drugs aimed at addressing the refractory anemia frequently observed in these syndromes. Lenalidomide is one such drug that has proven effective in treating the refractory anemia observed in 5q- syndrome and other drugs showing encouraging effects in MDS patients were also reported at this year's meeting. While not all drugs developed for an older population base may be suitable for the pediatric population, these studies in MDS provide important information and clues for individuals working on new treatments for DBA.
So while the glass may be half full in terms of translating DBA research to new treatments, I agree with Sarah Ball completely that this glass is rapidly filling.
Editorial note - space limitations prevent me mentioning all the other DBA-related research discussed at this year's meeting including other areas of hematological research that have been impacted by the rapid advancements in the DBA research field. My apologies to those investigators whose research I couldn't specifically highlight here.