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 Issue: # 52
August 2015 
In This Issue

No Shave November...
Pi!...
and more 

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.

This article was submitted by one of our DBA moms describing her personal commitment to raising research funds.

The thought of fundraising can seem daunting, but there are ways that you can make a difference by doing an "easy" fundraiser. Sometimes even in our jobs and communities there are opportunities that don't take much planning. I am fortunate to be a teacher in a K-12 school. Teaching in the upper school (grades 9-12) opens more opportunity for the kids to join clubs and community service. As a science teacher, it also affords me the joy of teaching all the kids about DBA. With the conversations about DBA, awareness and inspiration are born and the community wants to help. Last year there were three separate fundraisers for DBA.


One DBAF fundraiser was initiated by a fellow faculty member that asked for donations as he participated in "No Shave November."  Another was initiated by the Math Club on Pi Day. They sold pies and donated the money raised to the DBA Foundation. The third fundraiser was prompted by my former students in a club called HOSA (health occupations students of America www.hosa.org). They have decided every year their fundraisers will raise funds for the DBAF. This year will be their third year. As part of the fundraiser, the HOSA club made multiple announcements at assembly. In preparing for their announcements, they read and learned more about DBA and educated more of the staff, faculty, and parent body. For one fundraiser they sold subway sandwiches during lunch and last year they sold pizza.

While each separate fundraiser did
not make thousands of dollars, the joy experienced from helping to make a difference was palpable and the funds added up to a significant amount! So my suggestion is to look around you and see what is possible for fundraising. Whether it is at a school, work, fitness club, social club, sports clubs, or a place you frequently eat, play, or visit... people want to help. If everyone did one "easy" fundraiser every year, it would make a world of difference. 

Thank you to all who fund raise. I know we are making a difference.

Upcoming Events
Friends of DBA Golf Outing 
September 19, 2015 
Briarwood Golf Course
Broadview Heights, OH
Contact: 
Jim & Carol Mancuso 
c-mancuso@sbcglobal.net

Friends of DBA 5K / 1 mile walk 
October 4, 2015
Fox Meadow Golf Club
Medina, OH
Contact: 
Jim & Carol Mancuso 
c-mancuso@sbcglobal.net
 

Friends of DBA Night at the Races
 
March 12, 2016
 
Weymouth Country Club
 
Medina, OH
 
Contact: 
 
Jim & Carol Mancuso 
 
c-mancuso@sbcglobal.net


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.
Contact: 
Dawn Baumgardner
dbaumgardner@dbafoundation.org
716.674.2818  
  


 

Wristbands Available 
Contact:  
Twila Edwards  
twilak@cox.net
 
 
 


 


 


Tribute Cards Available

(2 Styles)
In honor of...
In memory of...
Contact:
Dawn Baumgardner
dbaumgardner@dbafoundation.org 
716.674.2818
  donation donation
 
 
5" x 5" Stickers Available
Contact:  
Dawn Baumgardner  
dbaumgardner@dbafoundation.org 
716.674.2818
  window sticker


 
 
 
 
 
 
 
 
 

7" x 5" Decals Available
Contact:  
David Voltz  
dcvol@yahoo.com
Cure DBA decal_Voltz.  


 

AmazonSmile Program
You Shop... Amazon Gives!
If you shop on Amazon, please log in using smile.amazon.com, select Diamond Blackfan Anemia Foundation as your charity, and shop as usual. Amazon will donate .05% of your purchase to the DBAF.
 
 
 
Good Search/Good Shop  
Raise money for DBAF 
just by searching the web and shopping online!   


 

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 DBAFoundation@juno.com.
A Clinician/Researcher's Perspective...
Camp Sunshine 2015 
By Vijay G. Sankaran, M.D., Ph.D.
As both a pediatric hematologist caring for patients with blood disorders and a scientist working to improve our understanding of the genetic basis of these diseases, I spend a large fraction of my time thinking about Diamond Blackfan anemia (DBA). However, while I have always found DBA to be a fascinating disease to study in the laboratory and I have taken care of patients with DBA in the clinic, it is difficult to appreciate the enormous impact that DBA can have upon families. It is for this reason that I have found the DBA week at Camp Sunshine to be a continuous source of inspiration, motivating me back in the laboratory to increase our knowledge of DBA with the hope of positively impacting the lives of individuals with DBA and their families.

This year was my third time at camp. I was first invited while I was still a fellow, at which time I had just started to work on the genetics of DBA in the lab (and I am truly grateful to Dawn Baumgardner for inviting me without hesitation to my first camp to discuss our genetic studies). Beginning with this first time when I came to camp, I have had many eye opening experiences by being able to have the time to listen to the stories of families dealing with DBA. Having to think about coming in for regular transfusions, remembering to be faithful in using iron chelators, and having to deal with a variety of medications and the resulting side effects can pose enormous challenges.These daily issues, however, do not even begin to account for the uncertainty and trials that all patients with DBA and their families face.

Despite these daunting challenges, there is tremendous hope in coming to camp, not only for families, but also for researchers - such as myself - as we try to work on developing better treatments for DBA. The support that exists among the patients and families is truly humbling, and the interest in ongoing research is incredibly motivating. In fact, I vividly remember my first time at Camp Sunshine when I presented data from our genetic studies of families with DBA. I discussed how we had found mutations in a gene, GATA1, in some patients with DBA. As soon as I presented this work, many of the parents began to wonder how this finding impacted their own children, specifically, and our global understanding of DBA, in general. The questions they posed motivated us to work hard in the lab to further our understanding of the biology of DBA. In fact, shortly after leaving camp, we started to pursue some research that has allowed us to gain important insight into DBA.(http://www.nature.com/nm/journal/v20/n7/full/nm.3557.html).

This year at camp was no exception. While giving a brief talk on new areas of research that could have an impact upon DBA, I was asked a lot of questions about the role of emerging therapeutic approaches, such as gene therapy or genome editing.(http://www.nature.com/nm/journal/v21/n3/full/nm.3814.html). These questions have encouraged us to develop better ways to study DBA using patient samples. Indeed, a discussion I had at camp this summer inspired our lab to develop a test to look at GATA1 levels in specific blood cells in patient samples, which could have both diagnostic and therapeutic implications.This discovery would not have been possible without the incredibly insightful questions that I received from the numerous family members and patients interested in ongoing research.

These stories that I've touched upon are just a couple of the many motivating and enlightening moments I've had at camp as both a clinician and a researcher.Rather than continuing on and reiterating everything I discussed during my talk at camp this summer, I'd like to ask you a favor: Please stay in touch and keep the questions coming. As I've tried to highlight, Camp Sunshine is incredibly motivating; however, as you know it is held every two years, which means that we could go a long time without continuing these fantastic, incredibly helpful, and inspiring conversations. That would be a shame. Some of you are already in touch by email or through other methods, and I would encourage you to continue to do so. While at times things can get busy with the day-to-day routine, you have my promise that I will respond as soon as I can. Additionally, many of us try to communicate our latest research findings and we are thrilled when families and patients can be made aware of the work we do (and thanks to Dr. Steve Ellis, you continually get wonderful updates in his regular Journal Club column). Not every promising lead will end up working in the clinical setting, but the more research we can do on DBA, the closer we can get to finding a therapy that may work for you or your loved ones. That is our hope. Please keep pushing us to get there.

Vijay Sankaran, MD, PhD is a pediatric hematologist/oncologist at Boston Children's Hospital and the Dana-Farber Cancer Institute. His laboratory website is http://bloodgenes.org and you can follow his lab on Twitter, @bloodgenes 
Going Back to School
By Anita Bruton
School started for us two days ago. My daughter, Mary Grace, has an IEP (Individual Education Plan) so I have become familiar with some of the resources available in a public school. She has Velo-cardio-facial syndrome. My son, Gabriel (who has DBA), has had his ups and downs, but we never put an IEP in place because he always has done well academically. Unfortunately, he still struggles with focusing and not being able to finish tasks on time and has all along. Sometimes he just doesn't feel right or up to it, but don't even get me started about getting him to do homework. What was different for us this first week of school was that Gabriel was recommended for a 504 plan. With his chronic transfusions, Gabriel misses classes once every three weeks and most of his teachers have been flexible over the years with due dates. This year he is a 5th grader and his teacher requires a 504 plan for flexibility. So how do we advocate for our kids that may have sluggish days or other challenges? By finding as much information as we can.

I came across a website called Understood: for learning and attention issues. I had intended on focusing on just the difference between an IEP and 504 plan, but found a wealth of information that could benefit many. The focus of the Understood website is to help any child who struggles to learn. The resources available include articles, tips, slideshows, apps, community connections, book recommendations and more. You can even customize the information you find. Through videos and online simulations you are even given an opportunity to experience what your child may be dealing with in "Through Your Child's Eyes." I just experienced what it is like for my daughter who struggles with math and is now in 3rd grade. "Wow," is all I can say. There is a short video from a child who experiences the challenge, a simulation, an educational video, and then the same child speaking about her success. It is short and sweet and really touched my heart.

As DBA parents and caregivers, we do the best we can to inform the teachers about our childrens' conditions and challenges. It is not always clear what our rights are and what resources are available to them. This website is a comprehensive tool that lays out all your options. If you are dealing with understanding the difference between an IEP and 504 plan, here is the article that breaks it down https://www.understood.org/en/school-learning/special-services/504-plan/the-difference-between-ieps-and-504-plans. I hope the website becomes a valuable resource and tool for you as well. Happy Schooling!   
Journal Club
Dateline: August 21, 2015 -  Brussels,  Belgium
Steve Ellis
Steven R. Ellis, Ph.D.
DBAF Research Director
Ding................that's odd, it is 3:00AM back in the US: who would be e-mailing me now?  Ah, it's Jeff Lipton; who happens to be sitting immediately in front of me listening to a talk at the 10th triennial Coference on Ribosome Synthesis. The e-mail is sent to all members of our extended research group, including Adrianna Vlachos, who is also attending the conference sitting along side of Dr. Lipton. The e-mail is short and to the point, we need to check the 5 genes the speaker is talking about for pathogenic mutations in DBA patients whose genes remain to be identified.

As readers of this newsletter are aware, newly diagnosed DBA patients are initially analyzed for potentially pathogenic mutations in known DBA genes and if such mutations fail to be identified, they can enter a research-study using various genome-wide analyses to potentially identify the disease-causative gene in the sea of genetic information that goes into making a human being who and what we are (poetic license used in ignoring the broader contributions of nurture to human development). But for those of us sifting through the reams of G's, A's, T's and C's that constitute genetic data, having good candidate genes for mutations that may give rise to defects in ribosome synthesis similar to known ribosomal proteins affected in DBA is a potential Godsend.

Insights such as these are one of the many reasons why the three of us are attending this meeting and why the Diamond Blackfan Anemia Foundation sees fit to provide financial support for this and other meetings relevant to the health and well being of DBA patients.The talk highlighted by Dr. Lipton was by Dieter Kressler, an investigator at the University of Fribourg in Switzerland. Although he was working in Baker's yeast, what Dr. Kessler was presenting clearly seemed relevant for DBA patients whose genes remain to be identified. His work revealed that many ribosomal proteins must be escorted from their site of synthesis in the cytoplasm to the nucleolus, a sub-compartment of the nucleus, where ribosomal proteins assemble with ribosomal RNAs and other ribosomal proteins to make a ribosome. These protein escorts are referred to as chaperones, which like chaperones at a teenage mixer are there to prevent inappropriate interactions between entities that have yet to reach full maturity. Ribosomal proteins, in particular, seem to be prone to getting themselves in trouble biochemically speaking, if left on their own apart from becoming a part of a functional ribosome. One such troublesome outcome is for the ribosomal protein to aggregate and be destroyed before ever reaching the nucleolus, and therefore being unavailable for ribosome synthesis. So the loss of one of these chaperones could very likely result in the net loss of the ribosomal protein it was there to protect. What was noteworthy from the Kressler talk to the DBA community was that some of the chaperones being discussed happened to be chaperones for ribosomal proteins affected in DBA. And so, or voil as they say in French speaking areas of Belgium, genes encoding these chaperones become candidates for disease-causing mutations in DBA patients, as the net effects of these mutations should be similar to the effects of mutations in the genes encoding the ribosomal protein they chaperone.

Another part of the meeting directly relevant to the DBA community was an entire session devoted to the two DBA proteins, Rpl5 and Rpl11. 
CONTINUE READING ARTICLE HERE

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