Issue: # 53  
December 2015 
In This Issue

Thank  You Nethery Family for Shining a Light on DBA

The Diamond Blackfan Anemia Foundation  (DBAF) sincerely thanks everyone who donates and helps to raise funds to support our mission to provide support for DBA patients, families, and research. We would also like to thank those individuals and families that bring more awareness about DBA to the world.

The Nethery family is one such family that continues to spotlight DBA awareness and fundraise through many different avenues. If you are not on Facebook, you may have missed their rendition of "Sing Away DBA"  that was a play off of "Lyrics for Liam" in August of 2014. Audrey's DBA Photo Booth Facebook page was created in December 2014 to help spread the word about DBA through home videos. Since then, Audrey's adorable videos have gone viral. Her Zumba videos were such a hit that she was invited to the International Zumba Conference. By being a part of that event, more people were told about DBA AND... the DBAF received a $10,000 donation from Zumba Fitness, LLC!
Audrey, and her parents Scott and Julie, have also appeared on the Rachael Ray Show twice to share their experiences.

A recounting of their experience by dad, Scott Nethery, "A few years ago my mom and a close friend began having some DBA benefits to raise money for the DBA Foundation. In order to spread awareness and advertise for the benefits, my Aunt created the Facebook Page, Audrey's DBA Photo Booth, and asked my wife and I to be the administrators. We started posting pictures of Audrey and eventually posted some videos. The videos (especially the Zumba videos) started to become very popular and began going viral! As a result we have been contacted by several local media outlets that have done stories about DBA. There have also been numerous internet media outlets that have done stories about Audrey and DBA. The most exciting is that The Rachael Ray show contacted us and we have done two shows about Audrey and DBA (the show producers are interested in doing more as well)!!! Audrey's DBA Photo Booth page now has over 600,000 likes! We are very proud and happy that Audrey has helped spread awareness and helped raise money for research for Diamond Blackfan Anemia!" 
Finding better treatment options and ultimately, a cure for Diamond Blackfan Anemia are certainly on every DBA patients' and families' wish list. Research and continued progress toward that goal will help make that wish a reality. We are grateful for the hard work, sacrifices and commitment of so many families willing to partner with us to make a difference.
Happy, Healthy New Year and we thank each of you for your support. 

Upcoming Events
Friends of DBA Night at the Races  
March 12, 2016  
Weymouth Country Club  
Medina, OH  
Jim & Carol Mancuso


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" Stickers Available
Dawn Baumgardner 
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7" x 5" Decals Available
David Voltz
Cure DBA decal_Voltz.  


AmazonSmile Program
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Quick Links
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
Happy Holidays and Thank You for Helping Us Fund More Research  

The Diamond Blackfan Anemia Foundation (DBAF), in collaboration with DBA Canada (DBAC), is pleased to announce the funding of a $56,225 grant to Dr. Colin Sieff for his research project entitled, "Developmental erythropoiesis in a new murine model of Diamond Blackfan anemia." The Sieff lab is known for their interest in molecular pathogenesis and treatment of certain inherited syndromes of bone marrow failure, particularly Diamond-Blackfan anemia (DBA).

Dr. Sieff's project is based on the hypothesis that there is a defect in stage-specific, fetal to adult developmental switching that leads to a failure of differentiation of adult erythroid progenitors. The Sieff lab has generated a conditional Rpl11 mouse model. This mouse model is unlike others in that severe anemia is induced with the heterozygous Rpl11 deletion in adult animals. Because deletion during fetal development appears to be less severe, this mouse model may be closer to mimicking human DBA. The aims of this study are to determine whether a block occurs in fetal or neonatal erythropoiesis in Rpl11 mouse models; to define the block in adult erythropoiesis; to define molecular changes in affected BFU-E from adult and fetal Rpl11 mouse models; and to determine whether prednisone alone or in combination with HIFIα stabilization resolves adult or fe­tal anemia in Rpl11 mice. They anticipate that screening for other drug candidates will be possible in the future with these mice.

The Diamond Blackfan Anemia Foundation is grateful to Dr. Sieff and his entire lab for their hard work and continued interest in Diamond Blackfan Anemia. We are also grateful to all those who support the DBAF and DBAC. It is because of YOU that we were able to provide funding for this project. THANK YOU for allowing us to continue funding important projects like this one!

DBAF Attends Annual Meeting for ASH
American Society of Hematology

The Diamond Blackfan Anemia Foundation (DBAF) proudly represented DBA at the 57th American Society of Hematology (ASH) Annual Meeting( and Exposition in Orlando, Florida from Dec. 5-7, 2015.

The ASH Annual Meeting provided an opportunity for thousands of hematologists, researchers, and other health-related professionals worldwide to connect and learn about the newest and hottest topics in hematology.

 Kathi Vroman, DBAF Board Member commented, "It is so important and a privilege for the DBAF to attend ASH and represent DBA and our families. This year at ASH we encountered many more hematologists who have adult DBA patients. This is a positive sign, of course, that the methods of treating DBA are improving but also a sign that we need to become more attentive to the impact DBA has on adults, as well as children."

  Visitors to the DBAF booth received information regarding DBA clinical care, patient opportunities, and research.  
Congratulations Vijay G. Sankaran, MD, PhD 

The Diamond Blackfan Anemia Foundation
 congratulates DBA researcher and physician, Vijay G. Sankaran, MD, PhD for receiving Boston Children's Rising Star Award. He received the award at the Boston Children's Global Pediatric Summit for his innovative research and future promise as a scientist/physician. 
Many of our families have had the pleasure of meeting Dr. Vijay Sankaran at Camp Sunshine. His passion to make a difference is clear. If you missed it, he also recently wrote an article in our August e-newsletter providing a clinician/researcher's perspective. The DBAF is sincerely grateful for his hard work and dedication to red blood cell disorders like DBA. Many thanks and congratulations!

For more information, click here.  

Vijay Sankaran, MD, PhD is a pediatric hematologist/oncologist at Boston Children's Hospital and the Dana-Farber Cancer Institute. His laboratory website is 
and you can follow his lab on Twitter, @bloodgenes  
Journal Club
Treat the patient, not the germline...

Steve Ellis
Steven R. Ellis, Ph.D.
DBAF Research Director
Or so goes a rallying cry by individuals* engaged in discussions of a technology set to evolutionize, whoops, I mean revolutionize, well......everything [1].

The technology in question has been given the acronym CRISPR. The acronym CRISPR stands for a mouthful, Clustered Regularly Interspaced Short Palindromic Repeat; referring to a process used by certain bacteria to identify and eliminate foreign nucleic acids. We will concern ourselves here not with how this process is of benefit to bacteria, but instead focus on how this process has been adapted to provide a facile way of editing DNA in human cells. In fact, CRISPR earned Science magazine's recognition as breakthrough of the year due largely to its low cost and ease of use, which has allowed virtually any biological laboratory to employ this technology to manifold ends (see December 17th 2015 issue of Science). The use of CRISPR to edit genomic DNA and cure virtually any genetic disease will be the focus of this article.
CRISPR technology could be classified as a form a gene therapy, but differs from classical forms of gene therapy discussed previously in this forum (Issue #49, April 2015). In classical forms of gene therapy a healthy form of a gene, oftentimes on a modified viral vector, is introduced into patient cells harboring mutant copies of the gene. This newly introduced gene can be inserted anywhere in the genome, thus both healthy and mutated genes typically persist in treated cells at distinct locations. In genome editing using CRISPR, the ultimate goal is to replace disease-causing mutations in a gene's native location within our chromosomes with healthy sequence without any other alterations to the genome. If this sounds a bit like science fiction or a someday hoped for future, let me simply say that the future may be closer than you think. A recent paper published in Human Gene Therapy describes the use of CRISPR technology to correct a disease causing mutation in skin cells derived from a patient with Fanconi anemia[2]. While these corrected cells are a proof of principle and have not been reintroduced back into the patient for use therapeutically, it would seem to be only a matter of time before similar experiments in more therapeutically relevant cells will extend this technology to the clinic.
Before discussing current limitations of CRISPR technology, let me first provide a brief overview of what is involved. The basic idea behind genome editing by CRISPR is relatively straightforward and involves introducing a double stranded break in DNA near a site to be edited and then using an exogenous fragment of DNA to repair the double-stranded break. Because the sequences of the exogenous DNA are used as a template to replace DNA that is found before, through and after the break, the original DNA in the cleaved strand is replaced by homologous sequences derived from the exogenously supplied DNA. If the original chromosomal DNA near the double-stranded cut harbors a disease causing mutation and the exogenous DNA used to repair the cut has a sequence found in healthy individuals, the net effect of the repair process is to replace the mutant DNA with healthy DNA. This form of DNA repair is referred to as homology-directed repair.
The key to CRISPR technology is therefore the ability to direct a double-stranded cut in DNA to a region of a chromosome near a disease-causing mutation. The enzyme that carries out the double-stranded cut is a nuclease referred to as Cas9. Cas9 forms a complex with a guide RNA that directs it to specific sequences in DNA. The guide RNA does this through its ability to form Watson/Crick base pairs with a target DNA.   Fortunately, the sequences of the guide RNA can be manipulated without dramatically affecting its ability to interact productively with Cas9, thereby allowing investigators to target virtually any DNA sequence for cleavage. Once Cas9, a synthetic guide RNA, and a exogenous DNA template are introduced into a cell, the homology-directed DNA repair machinery present in most cells uses the exogenous template to repair the guide RNA-directed double-stranded cut and when all is said and done, the mutated DNA is replaced by healthy DNA. This can all be done through the transient expression of CRISPR components in cells, such that once the genome has been edited all exogenous components used in editing are lost and the edited sequence is the only lasting change present in the modified cells. Optimal methods for delivering these various components to cells and biasing repair toward homology-directed repair as opposed to more error-prone mechanisms of DNA repair are currently being worked out to enhance the efficiency of genome editing.

This technology seems particularly appealing for bone marrow failure syndromes, which could potentially be treated by isolating a patient's hematopoietic stem cells, editing these cells, and then re-introducing the patient's own edited stem cells back into the body (thus a bone marrow transplant with a patient's own cells, ex vivo edited and expanded in culture before re-introduction back into the patient).

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