Download Issue #11 August 2011 In This Issue Taking A Swing DBAF Funds

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
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!
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 [email protected].
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.
The Diamond
Blackfan
Anemia
Foundation is
proud to fund
Dr.
Irma
Dianzani's
project
entitled:
Understandin
g the causes
of remission
in
DBA
patients. Dr.
Dianzani,
Dr. Irma 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.
Fundraising can be a difficult, yet rewarding, experience.
The goal of this project is to understand the molecular
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!"
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
The Diamond Blackfan Anemia Foundation sincerely therapeutically targeted in DBA treatment. Buona
thanks the Mancuso family for all their hard work and fortuna Dr. Dianzani and team!
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.
Last
Summer
at
Camp Sunshine, the
Diamond
Blackfan
For more information on this event, please contact Jim or
Anemia Foundation
Carol at [email protected]
presented
Hanna
Gazda, MD, Ph.D a
check for $51,512
THANK YOU MANCUSO FAMILY!
towards her project
entitled: New gene
discoveries
and
biology
of
Upcoming Events
ribosomes
in
Diamond Blackfan
DBA
Fishing
Tournament
Anemia.
August 27, 2011
Four Oaks, North Carolina
Contact:
Tracy
[email protected]
Friends of DBAF Golf
Outing & Silent Auction
September 17, 2011
Cherokee
Valley City, Ohio
Hills
Golf
Contact:
Jim and Carol Mancuso
[email protected]
Jack's
Fight
DBA
Dinner
to benefit DBAC
&
for
November 11, 2011
Orangeville
Orangeville,
Canada
Agricultural
Contact:
Janet Pereira
[email protected]
a
Dance
The DBAF is proud
Dr. Hanna Gazda
to
once
again
support her continuing efforts on this important project
Adams 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
Club 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
Cure mystery of remission, and to provide insights into
Gala 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
Center research.
Ontario
Donating is easy and all contributions are taxdeductable. Please visit our Donate Page for
details. If you are interested in organizing a
fundraiser to benefit the DBAF, please contact us
at [email protected].
THANK YOU!
Ongoing Fundraisers
Wristbands Available
Contact:
Twila Edwards
[email protected]
Tribute Cards Available
(2 styles)
In honor of...
In memory of...
Contact:
Dawn Baumgardner
[email protected]
716.674.2818
DBA Cookbooks Available
Contact:
Take the Challenge ~ Show Us
Your Logo
T-shirts,
hats, coffee
mugs, face
paintings,
tattoos,
bags,
pumpkins ...
our logo is
showing up
everywhere!
We are
thrilled that
our
Christopher Vroman and Matthew Pulnik
beautiful
meet at Matthew's "DBA Fun Day"
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 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... 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
[email protected].
Betty Lightner
[email protected]
To
download
your
order
form:
http://issuu.com/bhivemom/docs/cookbook_order_formpdf
Hooked on Research
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
Brandi Adams and her best friend are organize this event
"fishing for a cure"
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
Good
Search/Good
Shop getting involved. While this event raises awareness for
Raise money for DBAF just by searching the web and DBA, the money they have raised has helped to fund
shopping online!
numerous research projects. The Adams family
Just download the GoodSearch - Diamond Blackfan
Anemia Foundation - DBAF toolbar at
http://www.goodsearch.com/toolbar/diamond-blackfananemia-foundation-dbaf
Quick Links
Make a Donation
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 tshirt 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
Our Website
Join the DBA Yahoo Group
:: 716-674-2818
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
[email protected].
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,
[email protected].
contact
Dawn
at
Journal Club
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
Steven R. Ellis, PhD
Research Director
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;75:112.