banner
Issue #11  August 2011
In This Issue
Taking A Swing
DBAF Funds More Research
Show Us Your Logo!
Hooked on Research
DBA Care Notebook
Where Are You?
DBAF Journal Club

Taking a Swing at DBA

Mancuso Camp
 

When asked why they work so hard to organize an annual golf tournament and dinner auction to benefit the DBA Foundation, Jim and Carol Mancuso are quick to answer, "We really have no choice... our son's life depends on it."

 

Trevor Mancuso, now 15 years old, was diagnosed with DBA at 18 months old. The Mancuso family of Strongville, OH started their personal fundraising efforts in 2007. Known as Friends of DBAF, they have raised over $50,000.  This year, they hope to raise an additional $20,000 at their upcoming Golf Tournament and Dinner Auction. The event will be held September 17, 2011 in Valley City, Ohio.  All are invited to attend! 

 

Fundraising can be a difficult, yet rewarding, experience. Carol stated, "Over the past five years our efforts have not only yielded thousands of dollars but have given us a sense of pride and accomplishment. Fundraising is a humbling experience that creates this overwhelming feeling of gratitude to those who support and help you on your journey. It is a feeling of frustration, fear and exhaustion that can only be summed up as incredible!"    

The Diamond Blackfan Anemia Foundation sincerely thanks the Mancuso family for all their hard work and continued efforts. It is because of the commitment of our families and friends that we are able to fulfill our mission for patients... for families... for research.  

 

For more information on this event, please contact Jim or Carol at c-mancuso@sbcglobal.net  

 

 THANK YOU MANCUSO FAMILY!    

 

Upcoming Events

 

DBA Fishing Tournament     
August 27, 2011  

Four Oaks, North Carolina

Contact:  
Tracy Adams
tda101194@yahoo.com



Friends of DBAF Golf 
Outing & Silent Auction 
September 17, 2011  

Cherokee Hills Golf Club
Valley City, Ohio

Contact:  
Jim and Carol Mancuso 
c-mancuso@sbcglobal.net



Jack's Fight for a Cure
DBA Dinner & Dance Gala
to benefit DBAC 
November 11, 2011  
Orangeville Agricultural Center
Orangeville, Ontario
Canada

Contact:  
Janet Pereira
janet@jacksfightforacure.com




Ongoing Fundraisers 

 

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



DBA Cookbooks Available

Contact:

 

Betty Lightner

 

betty.lightner@gmail.com
To download your order form:

http://issuu.com/bhivemom/docs/cookbook_order_form-pdf


cookbook cover 




Good Search/Good Shop

Raise money for DBAF just by searching the web and shopping online!

Just download the GoodSearch - Diamond Blackfan Anemia Foundation - DBAF toolbar at http://www.goodsearch.com/toolbar/diamond-blackfan-anemia-foundation-dbaf

   

Search the Web now Money-saving coupons


 

Join Our Mailing List


Quick Links

Join the DBA Yahoo Group

Find us on Facebook

Follow us on Twitter 
:: 716-674-2818
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.

DBAF Funds Two More Research Projects  

  

Last month, we announced the funding of Swedish researcher Dr. Johan Flygare's project titled: Identification of Genetic and Chemical Modifiers of Erythropoiesis in Diamond Blackfan Anemia. This month, we are pleased to announce the funding of two more prominent DBA researchers. 

 
Irma Dianzani
Dr. Irma Dianzani

The Diamond Blackfan Anemia Foundation  is proud to fund Dr. Irma Dianzani's project entitled: Understanding the causes of remission in DBA patients. Dr. Dianzani, Professor, University of Eastern Piedmont, Novara, Italy was awarded an initial $30,000 to begin her important research, with the intent of funding an additional $30,000 based on the progress of her findings and the availability of funds.  

 

The goal of this project is to understand the molecular basis of remission in DBA patients. While remission occurs in approximately 20% of patients, the causes are unknown. Dr. Dianzani proposes to identify genes that, when mutated, lead to remission in DBA patients. The identification of genetic and molecular alterations resulting in disease remission is anticipated to reveal novel genetic and/or molecular pathways that may be therapeutically targeted in DBA treatment. Buona fortuna Dr. Dianzani and team!    

Hanna Gazda
Dr. Hanna Gazda

 

Last Summer at Camp Sunshine, the Diamond Blackfan Anemia Foundation presented Hanna Gazda, MD, Ph.D a check for $51,512 towards her project entitled: New gene discoveries and biology of ribosomes in Diamond Blackfan Anemia.

The DBAF is  proud to once again support her continuing efforts on this important project and has awarded Dr. Gazda, Instructor in Pediatrics, Harvard University, Children's Hospital Boston, $41,028 to continue her efforts in identifying genes mutated in DBA patients. Dr. Gazda has played a major role in the identification of several of the known DBA genes.  Further, her discoveries have clearly established DBA as a ribosomopathy which has helped direct research efforts on many aspects of the disorder. We are grateful to Dr. Gazda for her commitment to Diamond Blackfan Anemia and wish her and her colleagues continued success!

   

The DBAF sincerely thanks all our donors for your support. Without you, we would not be able to fund these exciting projects. As you can see, these worldwide research projects have the potential to answer questions, to identify genes, to unlock the mystery of remission, and to provide insights into therapeutic agents. These projects also represent the hopes of all of us for a better understanding, better treatment options, and possibly a cure for our "orphan disorder."  Please help us to continue funding critical research. 

 

Donating is easy and all contributions are tax-deductable. Please visit our Donate Page for details.  If you are interested in organizing a fundraiser to benefit the DBAF, please contact us at DBAFoundation@juno.com.  

THANK YOU!    

Take the Challenge ~ Show Us Your Logo 

Matt & Chris

Christopher Vroman and Matthew Pulnik meet at Matthew's "DBA Fun Day"

 T-shirts, hats, coffee mugs, face paintings,  tattoos, bags,  pumpkins ... our logo is showing up everywhere! We are thrilled that our beautiful logo is proudly being worn and displayed by patients, families, and friends.
 
 At five years old, Matthew Pulnik from Clinton, MA didn't need to know that DBA was an acronym for Diamond Blackfan Anemia... but we are all happy that he knows and cares! Matthew's grandmother told him about her friend's grandsons who have DBA. For the past five years, Matthew has held various fundraisers to support the DBAF, in spite of never meeting the family that inspired his lemonade stands, can drives, and backyard carnivals.  At his "DBA Fun Day" last month, DBA patient, Christopher Vroman from Acworth, GA showed up to surprise Matthew and thank him for all his hard work!  Thanks Grandma Dot Grady and Grandma Dot Kilcoyne for starting something wonderful!   
 
  Here's the challenge:  we'd like to see how   many places we caDBAF  Logon 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. 

Hooked on Research   

Brandi Adams and her best friend are "fishing for a cure" 

Over the past ten years, the Adams family of Four Oaks, NC has raised tens of thousands of dollars through their Annual DBA Fishing Tournament. Tracy Adams has worked tirelessly to organize this event in honor of her 16 year old daughter, Brandi. Tracy stated, "I will not stop fighting for a cure... unless I die!"

 

Tracy and her family understand the importance of getting involved. While this event raises awareness for DBA, the money they have raised has helped to fund numerous research projects. The Adams family recognizes the need for families to support research and is committed to their daughter and all DBA patients. Tracy said, "We hope and pray for a cure for DBA for our daughter and all DBA patients. These children and adults live in a shadow of an illness for which there is yet a cure, but... they dream. With everyone's help and support, I pray we can make their dreams come true."

 

This year's offshore event will take place on Saturday, August 27 from 9:00am to 1:00pm. The "biggest fish" wins a deep sea fishing trip for four people and many more prizes will be given away. Entry fee is $10.00 per person and all ages are welcome to participate. Need a new t-shirt? Advertise your business or name by becoming a $100 sponsor or purchase your DBA t-shirt for $10. Hurry, the deadline for sponsorships and prepaid t-shirts is August 20. For more information,contact Tracy at 919-625-7929.

    

DBA Care Notebooks Available 

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 dbaumgardner@dbafoundation.org.



Where Are You?
 

Did you move? Need to add a new address? Are you a recently diagnosed family? If you did not receive the Spring/Summer DBA Newsletter in the mail, it may mean we do not have your current mailing address. To stay informed, update your contact information at

http://www.dbafoundation.org/registration.php

 

If you have any questions, contact Dawn at DBAFoundation@juno.com. 

 Journal Club 
 
Steve Ellis
Steven R. Ellis, PhD
Research Director

Is there a new gene on the DBA horizon? A gene that doesn't so much cause the disease, but instead, influences some aspect of disease presentation or response to treatment; a so called modifier gene to use genetic parlance. The gene in question encodes the glucocorticoid receptor, a protein which binds glucocorticoids (corticosteroids, steroids) and subsequently influences the expression of many genes controlling many aspects of human growth and development ..... including erythropoiesis. The human glucocorticoid receptor gene is complex, expressing a number of different forms of the protein with likely influence how different tissues respond to glucocorticoids. There are two major forms of glucocorticoid receptor, GRα which mediates many effects of glucocorticoids and GRβ which appears to antagonize the effect of GRα1. The glucocorticoid receptor is also highly polymorphic, harboring sequence changes between individuals which may influence how a particular individual responds to glucocorticoids.

 

The discourse above leads us to this month's Journal Club, a manuscript by Varricchio et al [Blood (2011) 118:425-438 entitled, The dominant negative β isoform of the glucocorticoid receptor is uniquely expressed in erythroid cells expanded from polycythemia vera patients. Now individuals with polycythemia vera have exactly the opposite problem as patients with DBA; they have too many red blood cells rather than too few. But, what this manuscript shows is that the increased number of red blood cells in patients with polycythemia vera is linked, in part, to a particular mutation that enhances the expression of GRβ. The effect of GRβ on promoting enhanced red cell production is complex and beyond the scope of this Journal Club, but this paper raises the issue that polymorphisms in the glucocorticoid receptor gene can influence red cell production. This observation raises the question of whether there may be polymorphisms in the glucocorticoid receptor gene that dampen responses to steroids and if so, whether such polymorphisms are found in the glucocorticoid receptor gene of DBA patients that fail to respond effectively to steroids. Alternatively, there may be polymorphisms in the glucocorticoid receptor gene that are associated with a positive response of DBA patients to steroids.

 

The relationships between genes and outcomes are often referred to as genotype/phenotype relationships. These relationships have been difficult to decipher in DBA patients because we do not as yet know all the causative genes and that potential modifier genes could lie anywhere in the tens of thousands of genes encoded by the human genome. Oftentimes, large sample sizes are needed to identify such modifier genes, a seemingly insurmountable challenge for a rare disease like DBA. Nevertheless, when good candidate genes stand out for modifier effects, such as the glucocorticoid receptor gene discussed here, there is hope that by studying these genes in the DBA patient population, we may someday be able to predict from a genetic test whether a patient with respond to drugs like steroids. Further, should we be able to identify modifier genes linked to other variables in the DBA patient population, like remission, we may someday be able to predict the likelihood of these events as well. As information continues to grow in both clinical and genetic databases covering the DBA patient population these complex interrelationships will ultimately be deciphered leading to further enhancements in the care.   

 

1.Nicolaides NC, Galata Z, Kino T, Chrousos GP, Charmandari E. The human glucocorticoid receptor: molecular basis of biologic function. Steroids;75:1-12.