Going the Distance
The Luddy family of Vienna, VA is
going the distance for one year old Eliza and all our DBA patients and families.
On November 13, 2010, John and Tami's participation in the Richmond Marathon/Half Marathon will raise funds for the Diamond Blackfan Anemia Foundation. While John and Tami are reaching out to family, friends, and co-workers, Eliza's siblings, Mitchell, age 11, Natalie, age 7, and Jocelyn, age 10 will be supporting their parents' efforts by soliciting donations at their respective schools.
The DBAF is grateful to the many families that support our mission. It is solely because of our families that we continue to fund research projects and provide family support. We are proud of our families' accomplishments and commitment to finding a cause and a cure for DBA.
To support the Luddy family, please visit our website www.DBAFoundation.org
THANK YOU LUDDY FAMILY!
GO LUDDYS GO!
DBA Spaghetti Dinner
November 6, 2010
St. Paul's Episcopal Church
Fort Collins, CO
DBA Family Day - Texas
November 6, 2010
Children's Medical Center Dallas & The University of Texas Southwestern Medical Center
Debbie Boger, RN
DBA Day - New York
November 13, 2010
Steven & Alexandra Cohen Children's Medical Center of NY
New Hyde Park, NY
Ellen Muir, MSN, CNS
877. DBA. NURSe
Marathon/Half Marathon for DBAF
November 13, 2010
John & Tami Luddy
DBA 5K Walk/Run
April 23, 2011
Republic Parks & Recreation Center
Jacob & Scarlett Buckmaster
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.|
The Diamond Blackfan Anemia Foundation (DBAF) is proud to support worldwide research projects. Through the efforts, hard work, and generosity of our DBA families and friends, we are pleased to announce the funding of another DBA research proposal. We sincerely thank all of our families who have partnered with us to ensure that reviewed and approved research projects continue to be funded.
We've Done it Again!
Emanuela Tolosano, PhD of the University of Torino, Italy was awarded $22,000 for her proposal entitled "Investigation of a putative role for Feline Leukemia Virus subgroup C Receptor (FLVCR) in the pathogenesis of Diamond Blackfan Anemia."
This project is aimed at defining the role of the Feline Leukemia Virus, subgroup C, Receptor (FLVCR) in the pathogenesis of Diamond-Blackfan anemia (DBA). FLVCR encodes a protein that exports excess heme from cells. It has been suggested that defects in globin synthesis, perhaps as a result of ribosomal protein mutations, could result in excess heme in erythroid progenitors that would need to be exported from cells to reduce heme toxicity. Thus, FLVCR could play an important role in DBA pathogenesis. Recently, it has been reported that mice lacking FLVCR show a phenotype very close to that of DBA patients, including erythroid failure and malformations. However, no mutations in FLVCR have been found in a small subset of DBA patients. One of the goals of this study is to test additional DBA patients for mutations in FLVCR. It is possible however, that FLVCR could have a role in DBA pathogenesis without being mutated in DBA patients. Studies have shown that FLVCR is a complex gene giving rise to a number of related proteins that have different functions. Moreover, different tissues may express different forms of FLVCR protein. Given the complexity of the FLVCR gene it is possible that mutations in ribosomal protein genes could alter FLVCR expression. Therefore, this study will also focus on possible changes in FLVCR expression in cells with mutant forms of RPS19. Finally, the Tolosano laboratory will continue to study the role of different forms of the FLVCR protein in erythropoiesis
We are thankful to Dr. Tolosamo and all those dedicated to finding a cause and a cure for DBA. Thank you families...we've done it again!
Take the Challenge ~ Show Us Your Logo
T-shirts, hats, coffee mugs, face paintings, tattoos, pumpkins... our logo is showing up everywhere!
The Lightner family of Maryland got into the Halloween spirit by attending a pumpkin carving get together with family and friends. This glowing masterpiece was created by a DBA mom, Betty and her friend, Amy Horvitz. Thank you Ben, Betty, and Bailey Lightner for adding this treat to our Halloween!
The DBAF invites you to take us with you everywhere and anywhere you go. Our DBA families have joined together to fund research, support each other, and to raise DBA awareness. We are thrilled that our logo is proudly worn and displayed by patients and families everywhere.
Here's the challenge: we'd like to see how many places we can show off our logo! Take a picture of you and 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.
CDC Care Notebook
As a DBA patient, or a caregiver of a DBA patient, keeping medical records, appointments, questions, and pertinent information accessible and organized is often an overwhelming task. To assist our patients and families, a Care Notebook designed specifically for DBA patients is available! These materials were created by the Centers for Disease Control and Prevention (CDC) in collaboration with doctors, nurses, other professionals, and DBA families and are being distributed by the Diamond Blackfan Anemia Foundation. If you are interested in having one of these binders, please contact Dawn at 716.674.2818 (Eastern time) or by email at firstname.lastname@example.org.
This month's newsletter includes a new feature that we call Journal Club. In this column, I will discuss a recent manuscript
relevant to DBA research. I will try and stay away from review articles which by definition are research overviews intended for relatively broad audiences. Instead, I will focus on primary research articles, intended for more specialized scientific audiences, and attempt to bring their message to the wider DBA community. I should remind everyone that I am a Ph.D. basic scientist and nothing discussed in this forum should be considered a clinical recommendation. I should also point out that I would be more than happy to take requests for articles you would like to see covered in this forum. If you see an article you would like to have discussed, please feel free to contact me or the DBAF and we'll see if we can't include it a future newsletter.
| Steven R. Ellis, PhD|
I thought I would begin this forum with an article that many of you likely haven't seen, mostly because its relevance to DBA may not be immediately obvious. The article is entitled "An ARF-Independent c-MYC-Activated Tumor Suppression Pathway Mediated by Ribosomal Protein-Mdm2 Interaction" by Yanping Zhang and colleagues, published in Cancer Cell 2010 18:231-243.
My reason for choosing this article most likely reflects my role as a college professor and my desire to be able to understand and explain, 'why things are the way they are.' The manuscript by Zhang and colleagues provides a potential rationale for the mechanism of cell death induced by mutations in genes encoding ribosomal proteins. This mechanism of cell death appears to involve a protein known as p53, which gets activated in cells where ribosome synthesis is disrupted. A search of the pubmed database reveals there have been over 55,000 papers written on p53. This interest in p53 reflects its role in suppressing tumor formation through a variety of different mechanisms. On the flip side of tumor suppressors like p53 are oncogenes, or genes that promote cancer. A very important oncogene is c-Myc. In contrast to p53 which can block cell division or induce cell death, c-Myc promotes cell growth and division, in part by stimulating ribosome synthesis. Thus, the ribosome is in a pivotal position between the oncogene c-Myc and the tumor suppressor, p53.
Zhang and colleagues hypothesized that p53 activation in response to a dys-regulation of ribosome synthesis brought on by c-MYC overexpression could be a natural mechanism to eliminate cells with a high potential to become tumorigenic. They tested this model by disrupting the signaling pathway between dys-regulated ribosome synthesis and p53 activation. Their findings revealed that c-MYC induced tumorigenesis was enhanced in the absence of this signaling mechanism supporting their hypothesis (see Figure).
So what does this tell us about DBA? Basically, the signaling mechanisms studied by Zhang and colleagues are very similar if not identical to signaling mechanisms thought to be in play in cells where mutations in genes encoding ribosomal proteins interfere with ribosome synthesis. Thus, mutations in ribosomal protein genes could trigger cell death by unfortunately spilling over into a mechanism hard wired into cells to reduce tumor formation (see Figure). So, a cellular mechanism that presumably helps all humans reduce tumor incidence may be the culprit affecting those unfortunate enough to back into this mechanism through an inadvertent mutation in a gene encoding one of the ribosomal protein genes involved in DBA.
My reasons for choosing this article could be considered something of a selfish academic pursuit, since speculating on 'why things are the way they are' is not everyone's cup of tea. So, at this point I will take the advice of a minister friend of mine, who once told me never finish a sermon, or article as the case may be, without providing the good news. The good news in this case is that the research community studying cancer is very large and that by spilling over into mechanisms relevant to those studying cancer, DBA has caught the eye of an increasing number of outstanding researchers. Some of these researchers have turned their attention to DBA, adding to the cadre of researchers already in the field. As interest in DBA research grows, so do the prospects for continued advances in the field and for improved therapies arising from these discoveries.