July 2012                                                                                              Volume 22
In This Issue
Dazzling Diamond of Hope
Another Record Breaking Year!
Show Us Your Logo!
Journal Club
The Dazzling Diamond of Hope
Lanore diamond(1)
The Lanore Family with their Dazzling Diamond of Hope 

This year during our family meeting at Camp Sunshine, the Diamond Blackfan Anemia Foundation, Inc. (DBAF) recognized families for their support and fundraising efforts. A new "DBA family tradition" was introduced... the Dazzling Diamond of Hope! Much like Camp's coveted Love Cup, the Dazzling Diamond of Hope is a fun way to bring us all together while applauding our families' accomplishments.


The inaugural Dazzling Diamonds of Hope were presented to the following families:


The Lanore family of Muskegon, MI was given the very first Dazzling Diamond of Hope for their continued hard work and much-appreciated fundraising efforts. For the past seven years, Justin and Tammi have answered the call of getting involved and making a difference. The Lanores host a bowling event and silent auction in honor of their 14 year old son, Cameron.  They have raised over $70,000 and are still going strong. Thank you, Lanore family! 


The Cheung family of Lexington, MA was presented with a Dazzling Diamond of Hope for going above and beyond.  Shiufun and Josephine Cheung initiated their own letter writing campaign, asking family and friends to support the DBAF's mission. Their campaign, in honor of their 10 year old son, Pascal, was very successful. But... the Cheungs didn't stop there!  They personally matched their family and friends' generous donations and doubled the success. Thank you, Shiufun and Josephine!


The third Dazzling Diamond of Hope went to the Sinatra family of Boca Raton, Fl for their continued support of the DBAF.  Peter and Sharon (D'Amico) Sinatra have been inspirational and instrumental in the DBAF's success. Their 24 year old son, (the one and only) Michael Sinatra, received a successful transplant nine years ago. Recognizing that a successful transplant is not "the end" of their DBA story, they continue to generously support our mission and families. Thank you, Sinatra and D'Amico families!


The final family Dazzling Diamond of Hope went to the Sisemore-Estes family for being the most resourceful. Often families ask, "What type of fundraiser should we do?"  Usually when a family takes into account their contacts and interests, the idea for a successful fundraiser is right outside their window. So was the case for Erich Estes and Melanie Sisemore. As owners and operators of a PA farm that specializes in raising pastured animals for meat, and chickens for eggs, Erich and Melanie, parents of 4 year old Milledge,  raffled off a prize hog! They gained support of other farmers at local Farmer's Markets and had a very successful event! Thank you, Erich and Melanie! 


A Dazzling Diamond of Hope was also presented to a very special guest. Eleven year old Matthew Pulnik and his family visited Camp Sunshine to meet our families. Since he has been 4 years old, Matthew has been organizing fundraisers to help DBA patients, raising thousands of dollars. Matthew's grandmother and grandmother to the Vroman boys are very close friends. After hearing their stories, Matthew wanted to help and took action to help "find a cure."  Thank you, Matthew and Pulnik & Grady families!


The Diamond Blackfan Anemia Foundation, Inc. sincerely thanks all our families for their support. The success of advancing our mission depends on you, and we encourage each of you to get involved. From bake sales and car washes to galas and auctions, please consider joining the many families supporting our cause.


Don't know where to begin?  The DBAF can assist you. Often the easiest fundraiser is a personal letter writing campaign.  The DBAF has pre-printed letters and envelopes ready for you to sign, seal, address, and mail to your family and friends. Please call Dawn at 716.674.2818 for your letter-writing campaign packet today!

Upcoming Events


Friends of DBAF Golf Outing 
& Silent Auction  
September 15, 2012  
Cherokee Hills Golf Club
Valley City, OH
Jim & Carol Mancuso
DBA Spaghetti & Lasagna Dinner  
September 15, 2012
4:00 - 7:00pm  
Linden United Methodist Fellowship Hall
Linden, VA
Tina Singhas
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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:: 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 us at

DBA Family Meeting - Another Record Breaking Year!


Camp group 2012


Oh... Camp Sunshine... we are so very grateful!  Through the generosity and compassion of our friends at Camp Sunshine, a record breaking number of DBA families and patients had the opportunity to meet in Casco, Maine from July 8-13, 2012. Camp Sunshine graciously opened their hearts, arms, and doors a little wider to help us accommodate 58 DBA families and 64 patients!


The week was filled with information, emotions, friendship, and hope. As the children were engaged in fun camp activities with the masses of yellow-shirted, amazing volunteers, parents and adult DBA patients attended educational seminars presented by experts in their fields. The week's itinerary was full and informative. The DBAF is proud to host the family retreat and give our families and the doctors and researchers a chance to meet and collaborate. A big thank you to the following presenters:


Dr. Blanche AlterHematology/DBA 101 

Dr. Hanna Gazda & Dr. Vijay Sankaran - Genetics 101/DBA Gene Discovery & What it Means 

Dr. Jeffrey Lipton - DBAR Information 

Dr. Jeff Lipton, Dr. Adrianna Vlachos & Ellen Muir - Treatments & Management of DBA (including SCT) 

Dr. Maria Henwood-FinleyEndocrine Issues & Bone Health 

Dr. Lawrence Wolfe - Iron Overload, Measurements & Treatments 

Dr. Monica Bessler - Transitioning the DBA Patient from Pediatric to Adult Care/Adult Issues 

Ellen Muir - DBA Clinical Trials 
Dr. Steven Ellis & Dr. David Bodine - Direction of DBA Research & Overview 

All Doctors - Question & Answer Sessions


The DBAF strives to keep all our families informed and up-to-date. Over the next several weeks and months, please read the upcoming e-newsletters and visit our website,,  as we recap the information discussed at Camp.


In addition to the medical and research aspects, we are extremely grateful for the care and guidance provided to our families through Camp Sunshine's psychosocial program. The program's director, Nancy Cincotta, M.S.W., M.Phil, is near and dear to each of us and her expertise and genuine heart help to make Camp a very special and safe place.


The fun continued all week long with nightly entertainment including a magic show, masquerade party, talent show (Who knew we were such a talented bunch?), karaoke, and lots of music, fun, laughing and singing. The week concluded with the campers' Wish Boat Ceremony and a very special tribute to some very special people.  


Since our last Camp in 2010, our DBA family has lost 21 21 balloons patients. Twenty-one precious lives in twenty-four months is a staggering, somber, unacceptable number of deaths.  As we released 21 white balloons, our hearts were heavy and our unwavering commitment to make a difference was strengthened. Our mission to support DBA patients, families, and research needs to be supported and promoted by all of us. 


It is impossible to recount all of the activities and emotions of the entire week.  It was priceless to see children drinking their Exjade together.  It was inspiring to watch teenagers encourage each other to "get their pumps on."  It was humbling to hear what the siblings were thinking, and what words of wisdom the young adults wished to share.  It was amazing to see families come together and adult patients meet other DBA patients for the very first time.  It was gratifying to have our families present checks to three DBA researchers and hear firsthand the impact our funds are making. It was fun to watch the doctors interact with the children on the waterfront, and hopeful to watch tears well up in the eyes of a researcher as he spoke of his deep passion to help cure our patients. Yes, it was truly an indescribable, memorable, beautiful week


On that note, the DBA Foundation has an important 
announcement regarding Camp Sunshine!  The DBAF has recently assumed the responsibilities of the premier biennial DBA scientific meeting.  In the past, the DBA International Consensus Conference (ICC) was graciously and expertly organized, sponsored, and hosted by the Daniella Maria Arturi Foundation.  This indispensable conference is necessary to ensure DBA research and worldwide collaboration continues.  Since the DBAF will be now be hosting the ICC on even years (2014, 2016, etc.), the decision was made to move Camp Sunshine to the odd years. If we have the funding and capabilities, our hope is to host Camp in 2013!! Hopefully, we will see many of you next summer.

Show Us Your Logo!    


sally window sticker

We are making it easy to Show Us Your Logo and to help spread the word about Diamond Blackfan Anemia! 


Sally Thompson Gately, mom to Kevin Gately  

(1981 - 2010), proudly displays one of her DBA stickers on a window in their Peabody, MA home. Sally's "green thumb"  helps create a beautiful message for all to see.

To get your stickers, make a minimum donation of $5 for each decal to the DBA Foundation by check (via mail) or credit card/PayPal. Visit our website's Fundraising Activities Page for more information.  Many thanks to Michelle Holdren for making these stickers available! 


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  
DBAF's Monthly Journal Club

Steve Ellis
Steven R. Ellis, PhD
DBAF Research Director

DNA makes RNA makes protein... The Central Dogma of Molecular Biology...  originally stated by Frances Crick in 19581Ah, but times were much simpler back then.  Back when genes were genes; when a contiguous sequence of deoxyribonucleotide bases in DNA was transcribed into a contiguous sequence of ribonucleotides in RNA, which was then read off in groups of three by the genetic code to create a contiguous sequence of amino acids in a protein.  The chain of amino acids in a protein ultimately folds into a three dimensional structure that gives form and function to the information stored in DNA. 

Or so it was for the bacterial cells being studied at this time. 


The Central Dogma of Molecular Biology began to unravel somewhat with the discovery of a viral enzyme that could make DNA from RNA, and so reversing the flow of genetic information outlined in the central dogma leading to the enzyme being named reverse transcriptase.  One such virus which violates the central dogma is HIV and its reverse transcriptase enzyme is a major target for drugs used to fight AIDS.  But I digress.    


The Central Dogma took another blow in the 70's, not so much for a violation of its central tenants, but instead for the discovery that gene sequences in the genomes of higher organisms were not contiguous.  An example of what I mean here is the dystrophin gene which is responsible for certain forms of muscular dystrophy.  The DNA sequence of this gene spans over 2.4 million bases of DNA which gets transcribed into a similarly sized precursor RNA of 2.4 million bases.  The RNA that actually codes for the dsytrophin protein however is only around 14,000 bases.  These 14,000 bases are found as little snippets of information along the length of the entire gene.  The process by which these little snippets are linked together and all the extra sequences removed is known as RNA splicing.  In molecular biology jargon, the little snippets linked together are referred to as exons, to reflect the fact that they are what you see as final expressed portions of a gene.  The intervening sequences between exons, so called introns, are rapidly removed and oftentimes degraded, and so seemed like a terribly wasteful way to organize genetic information. 

Rather than focus on the rationale behind this seemingly wasteful way of organizing genes in humans, I would rather focus on the process through which introns are removed and exons spliced together.  This process is catalyzed by a molecular assembly every bit as complicated as the ribosome known as the spliceosome (aren't we clever in naming these things).  Spliceosomes recognize boundaries between two exons and their intervening intron, and in a series of relatively simple reactions pop out the intron and ligate together the exons.  This excision and subsequent ligation has to be extremely precise or the information carried within an RNA could become gibberish when translated into a protein.  


What makes this process so remarkable to me is that the sequences involved in defining exon/intron boundaries  that allow for spliceosome recognition and appropriate splicing are incredibly simple. The sequence at the 5' exon/intron border that is absolutely conserved (found in all spliced introns) is a simple GU at the 5' end of the intron, whereas the conserved sequence at the boundary between the intron and the 3' exon is an AG (Figure 2) .   These two-base sequences can be found at many locations in an RNA, many of which do not define exon/intron boundaries, so obviously other sequences must contribute to spliceosome recognition.  These other sequences however are far less conserved from one intron to another so their relative importance to splicing can be challenging to discern 2.           


This rather lengthy lead in brings us to this month's Journal Club.  Recently a paper was published that identified the first DBA gene that did not encode a ribosomal protein 3.  Instead the gene affected encodes GATA1, a well known transcription factor required for erythropoiesis.  Transcription factors play a vital role in the central dogma transcribing DNA into RNA.  A tissue specific transcription factor like GATA1, transcribes genes that encode proteins important for red cell development.  Thus, it makes a great deal of sense why deficiency of a protein like GATA1 could cause the defect in erythropoiesis seen in DBA.  In fact it makes infinitely more sense than why a defective ribosomal protein gene should cause the disease.


An obvious question raised by this discovery is whether a person with a mutation in GATA1 has a different form of DBA that a person who may be mutated in one of the ribosomal protein genes.  Since the GATA1 gene is found on the X chromosome and is presumably recessive in terms of disease transmission, the disease is passed down from an unaffected mother to son, and so is primarily manifested in males (Figure 1).  An affected male could not pass on this gene to a son and if the affected male happened to transmit the gene to a daughter it is unlikely she would manifest the disease because of its recessive nature (the following discourse assumes the child's mother does not harbor a mutant form of GATA1 which is a reasonable assumption for the general population).  See Figure 1 for possible transmission outcomes. 


While the mode of transmission of GATA1 may be distinct from other DBA genes, the word is still out as to whether the disease itself is fundamentally distinct in GATA1 patients relative to ribosomal protein patients.  It is possible these genes may be part of a molecular continuum, for example, it seems reasonable to suggest that a defect in protein synthesis caused by a ribosomal protein mutation could affect GATA1 expression and so cause a defect in erythropoiesis.  Thus, mutations in either a ribosomal protein gene or GATA1 could in principle have the same outcome in terms of affecting erythropoiesis.  Other options are of course possible, and the degree to which GATA1 mutations and ribosomal protein gene mutations overlap at the molecular level will require further study.  An extensive discussion of the implications of finding a non-ribosomal protein DBA gene can be found in an article accompanying the Sankaran publication by Weiss and colleagues. 4


At present, there is one thing that links the new GATA1 mutation with some of the other ribosomal protein mutations and that is that these mutations fall within splice site recognition sequences and influence splicing.  For GATA1, the mutation changes a base at the end of the 5' exon at the exon/intron border   (Fig. 2).  The base changes from a G (guanine) to a C (cytosine).  Since this change occurs in an expressed portion of the gene, it does cause a replacement of one amino acid for another in the GATA1 protein.  These two amino acids are relatively similar in their properties so this change is not thought to be a major player in causing the disease.  Instead, the G at the exon/intron border is one of those bases that appears to be important for accurate splicing, but is not absolutely conserved.  In fact, some spliced genes have been shown to have an A (adenosine) and T (thymidine) at this position in spliced introns  (Fig. 2).  Unfortunately for the DBA family in the Sankaran report, a C has never been found at this position in an efficiently spliced intron.  As a consequence of the mutation in this DBA family, the splicing machinery ignores this splice site boundary and jumps down to the next exon.  The net effect of this jump is that the final RNA produces a GATA1 protein that is smaller, missing a critical bit of information needed for appropriate function. 


The example discussed at length above is just one of many mutations found at splice site boundaries that result in human disease.  Some of the mutations in ribosomal proteins genes interfere with appropriate splicing and so also lead to DBA.  Similar examples are found in other diseases as well, including the dystrophin gene discussed above which has 79 exons to splice together!   


Now the fact that some of these disease causing mutations are found in less conserved sequences found at exon/intron boundaries suggests that there might be some therapeutic wiggle room to restore appropriate splicing in individuals harboring these mutations.  For example, the Sankaran manuscript indicates that affected individuals harboring the G to C mutation still splice around 5% of their GATA1 transcripts correctly.  Thus, even with this mutation, the splicing machinery recognizes and appropriately splices 1 of 20 transcripts.  The question then becomes whether there will be means to tweak the splicing machinery where we can up the percentage of correctly spliced mutant transcripts without having a severe impact on millions of other splicing events that must go on within the human body.  The fact that mutations in splice site boundaries impact on some many human diseases means that this is an area of intense investigation and so there is hope that this research can be translated into improved therapies for DBA.  Bringing further hope to this area is the recent finding that changes in the splicing machinery play a role in carcinogenesis which will bring even more investigators into this area 5.  


With the publication of the GATA1 paper' a new chapter on Diamond Blackfan anemia has begun to unfurl.  It has opened our minds to a greater understanding of the underlying basis of this disease and opened the door to new therapeutic opportunities.  Let us hope that these and other advances in the field can be quickly translated into more effective therapies.


1.            Crick FH. On protein synthesis. Symp Soc Exp Biol. 1958;12:138-163. Prepublished on 1958/01/01 as DOI.

2.            Padgett RA. New connections between splicing and human disease. Trends Genet. 2012;28(4):147-154. Prepublished on 2012/03/09 as DOI 10.1016/j.tig.2012.01.001.

3.            Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122(7):2439-2443. Prepublished on 2012/06/19 as DOI 10.1172/JCI63597.

4.            Weiss MJ, Mason PJ, Bessler M. What's in a name? J Clin Invest. 2012;122(7):2346-2349. Prepublished on 2012/06/19 as DOI 10.1172/JCI63989.

5.            Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365(15):1384-1395. Prepublished on 2011/10/15 as DOI 10.1056/NEJMoa1103283.