December 2011
In This Issue
The "Write" Stuff
DBAF & DBAC Fund $125,225
Research Project.
Volume 15
The Diamond Blackfan Anemia Foundation(DBAF) is committed to
keeping you updated and connected to the entire DBA community.
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Journal Club
The "Write" Stuff
Although many advances have been
made in understanding DBA, more
needs to be done if we are to find
better treatment options, and
hopefully, a cure. As DBA families
and friends, we have a a vested
interest and a responsibility to
ensure that research continues.
Our hope for a cure is
research.
This year, the DBAF has received a
record number of grant proposals
from researchers around the world.
We are excited and encouraged
that DBA has caught the attention
of prominent researchers. But...
that means we need your
support more than ever!
The DBAF is asking our families
DBAF & DBAC Fund $125,225
Research Project
The DBA Foundation (DBAF) is
proud to announce the funding of
Dr. Adrianna Vlachos' research
project entitled, A Stategic
Approach to Gene Discovery in
DBA. We are pleased to fund this
exciting project with DBA Canada
Adrianna Vlachos, MD
(DBAC) and appreciate their
$25,000 commitment towards this
$125,225 multi-centered project.
The goal of this research project is to
identify genes affected in the
approximately 30-40% of DBA
patients where their genes have not
been identified by traditional
sequencing of candidate ribosomal
protein genes. Dr. Vlachos, Dr.
Bodine, and a strong cadre of
investigators at the National
David Bodine, PhD
Genome Institute and John Hopkins
University will employ state of the art technologies to
further identify genes affected in DBA patients. The
investigators will use comparative genome hybridization to
identify genes deleted in DBA patients that may be
responsible for the disease, and interrogate the entire
genome using whole exome sequencing. "We are so pleased
and friends to support our efforts
with your personal donation and
commitment. Next, we are hoping
for your participation in a letter
writing campaign. The DBAF has
written and printed the letter for
you, and will provide you with the
requested number of letters and
envelopes. Simply sign the letter
with a personal note and mail to
your friends and families. It's
quick and easy! The DBA
Foundation is a 501(c)(3)
organization and all donations are
fully tax deductible as allowed by
law.
Our hope for a cure is
research. Your participation in
this letter writing campaign is
encouraged and appreciated. The
DBA Foundation is proud of our
accomplishments. We realize that it
is only through the commitment of
our friends and families that we are
able to fulfill our mission of
supporting DBA patients, families,
and research.
Please feel free to contact Dawn
regarding this opportunity to help
the DBA Foundation at
dbaumgardner@dbafoundation.org
or 716.674.2818.
THANK YOU for your
support!
Upcoming Events
to have DBAF's support and that of DBA Canada. We hope
to continue to discover new genes and be able to genotype
more and more patients," stated Dr. Vlachos.
Why it matters. Gene discovery not only has the potential
to lead to new therapeutic treatments, it is also vital to
patient care. Initially it was thought that the vast majority of
the DBA cases reported to the DBAR were sporadic.
However, with the discovery of 11 published DBA genes,
family studies have identified a higher-than-expected
proportion of individuals carrying the gene mutation,
without ever being anemic or requiring treatment. These
individuals may have mild, if any, hematologic
manifestations with or without DBA-associated congenital
anomalies. Identification, in a timely fashion, of inherited
cases within a family is imperative so that appropriate
reproductive and, when applicable, stem cell transplant
choices can be made. For example, asymptomatic siblings
or parents can be counseled as to the risk of having an
affected offspring, and asymptomatic, yet genetically
affected siblings would be identified as unacceptable stem
cell transplant donors for DBA patients.
The DBA Foundation sincerely thanks all our families and
friends that have made funding this project possible. The
researchers also appreciate your efforts. Dr. David Bodine
stated, " I promise to make this money count. It will allow us
to move much faster in our search for DBA mutations. We
are all grateful to the families and contributors for their
confidence in us."
Our hope for a cure is research. Your generous
donations and fundraisers allow us to fulfill our mission of
supporting DBA patients, families, and research.
Show Us Your
Logo!
Freezin' for a Reason
January 21,2012
Wachusett MountainPrinceton, MA
Contact:
Julie Grady
Matthew's page
DBA Support Group
March 21, 2012
Matthew Pulnik is at it again!!!
One of DBAF''s youngest, but
most committed fundraisers, Matthew Pulnik, is going to be
"Freezin' for a Reason" on January 21, 2012 at Wachusett
Mountain, Princeton MA. Mighty Matthew and his "Team
Lemonade for DBA" will be taking the polar plunge in water
described by Wachusett Mountain as cold enough to make "grown
men scream for their mommies" or the "chicken dip" (for those
"too scared or too smart" to do the full plunge) to raise money for
New Hyde Park, NY
DBA families to attend Camp Sunshine this summer in Maine.
Contact:
Ellen Muir
emuir@nshs.edu
1.877.DBA.NURSe
DBA Bowling Fundraiser
April 21, 2012
Grand Haven, MI
Contact:
Tammi Lanore
jjlanore@frontier.com
Ongoing Fundraisers
Mixed Bags Designs
Contact:
Matthew has formed a team with hopes of raising $4,000 to send
two families to Camp this summer. And this is not his only DBA
fundraiser. Matthew, an 11 year old from Clinton, MA has more
fundraisers planned for the coming months. How lucky are we
DBA families to have young Matthew Pulnik in our corner!!! For
more information, visit his fundraising page.
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... 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.
Vickie Lamb
Use Code: 69293
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DBAF's Monthly Journal Club
San Diego, California,
December 10-13, 2011
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The American Society of
Hematology (ASH) held its
annual meeting highlighting
recent advances in all areas of
hematology. Readers of this
newsletter will be encouraged to
know that Diamond Blackfan
anemia took front and center at
this year's meeting with its
Steven R. Ellis, PhD
approximately 20,000 attendees
DBAF Research Director
from around the world. Many
who know me are aware that I
am prone to hyperbole when trying to make a point, so one could
fairly ask whether my statement that DBA took front and center at
this meeting of so many prominent hematologists may be
somewhat of an overstatement. I'll leave this judgment up to you
as I relay the events of the past few days.
Twila Edwards
twilak@cox.net
Saturday, December 10th
The first day of the ASH meeting is filled with education and
scientific programs. The topics discussed in these programs are
selected by various committees within ASH and are intended as
relatively general 20-30 minute talks on topics deemed particularly
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Contact:
Dawn Baumgardner
dbaumgardner@dbafoundation.org
716.674.2818
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important or exciting in the past year. The scientific program, as its
name implies, tends to be more basic science oriented and this
year's list of scientific program sessions began with a session at
7:30 AM entitled, "p53, ribosome, and Diamond Blackfan anemia."
Yes, you read that correctly, 7:30 AM on a Saturday morning. So
after shaking off a little jet lag and some minor foul ups with the
busses bringing members in from hotels all over the San Diego
metropolitan area, I found myself running down Harbor Drive
weaving in and out of hematologists packing the sidewalks,
recalling the old Avis commercial with O.J. Simpson running
through an airport, in the hopes that I might not miss this first
session. While I arrived approximately 10 minutes after the
session began, I was nevertheless able to hear much of a talk from
Dr. Harvey Lodish, a world renowned expert on erythropoiesis who
in the past few years has developed an interest in DBA. This talk
highlighting recent research in erythroid development introduced
the audience to a new class of molecules important for
erythropoiesis emphasizing again why the Lodish laboratory has
been on the forefront of red cell research for many years. This talk
was followed by a report from Dr. Stefan Karlssonon his creation of
a new mouse model of DBA which was a remarkable feat of genetic
engineering. This mouse promises to be one of the best animal
models of DBA so far developed filling an important void in the
DBA research world. The session ended with a talk from Dr. Gigi
Lozano, an accomplished researcher in the cancer field, who talked
about her recent work on the role of the p53 tumor suppressor
protein during hematopoiesis. There was at least one major
surprise presented by Dr. Lozano which prompted Dr. Jeffrey
Lipton to state during the question and answer period that Dr.
Lozano can expect to have a number of new friends from the DBA
field.
Betty Lightner
betty.lightner@gmail.com
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Editorial note - my descriptions of the actual research presented
during the sessions is necessarily vague since speakers often
present unpublished research making it inappropriate for me to
discuss their work in detail within this forum.
After leaving this scientific program many interested in the DBA
field rushed the half mile or so to the San Diego Hyatt to attend the
education program on "Understanding and Management of
Inherited Bone Marrow Failure Syndromes." The highlight of this
session from a DBA-centric view was a talk from Dr. Sarah Ball
where she provided an update relating to the management of DBA.
I found that Dr. Ball really captured why DBA figured so
prominently in this year's ASH meeting with the following quote
from her talk. "The floodlights of science have brought it (DBA)
into the public gaze."
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Having said this, Dr. Ball was quick to point out that this explosion
of science in the DBA field has yet to lead to new treatments.
Rather than leave us with this rather downbeat assessment, she
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stated that the relationship between science and clinical
application in DBA can be considered a glass half full that was
filling all the time. I certainly agree with Dr. Ball's optimistic
assessment and I hope I will be able to convince you why with
further conference highlights discussed below.
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Sunday, December 11
With the bus crisis sorted out, I was able to make the 7:00 AM
Grassroots Network Breakfast which is intended as a forum for
ASH's advocacy efforts to communicate the importance of
hematology research and clinical affairs to Congress and the White
House. This year's speaker at the breakfast was Ms. Marie Arturi,
director of the Daniella Maria Arturi Foundation who spoke on
their efforts and successes in promoting DBA research and
awareness in Washington. Among the outcomes of this advocacy
were programs developed by the National Institutes of Health and
Department of Defense to support research on DBA and other bone
marrow failure syndromes, public health outreach and surveillance
programs developed by the Center for Disease Control, and the
creation of clinical resource centers for DBA across the nation.
:: 716-674-2818
The education and scientific programs continued Sunday morning
and afternoon, and while there were no other programs specifically
devoted to the inherited bone marrow failure syndromes, DBA was
mentioned in other sessions I attended on iron metabolism and the
myelodysplatic syndromes.
The various education and scientific programs took a break Sunday
afternoon so attendees could attend a plenary session where a
number of ASH awards were given out and talks were given by
individuals whose abstracts were selected as best from the
thousands of abstracts submitted to the meeting. I would estimate
that somewhere between 5 and 10,000 people attend these
sessions where this year DBA figured prominently. Ms. Arturi
received an ASH public service award for outstanding "behind the
scenes" leadership in areas relevant to the mission of the society.
Her acceptance speech highlighted the importance of continued
efforts to understand the molecular basis of DBA and translate
these efforts to improved patient care. Also of note, Dr. David
Nathan received the Wallace H. Coulter Award for Lifetime
Achievement in Hematology. Dr. Nathan has carried out
exceptional work in the hematological field including the
development of the first successful treatment for iron overload. In
addition to his own work in the inherited bone marrow failure field
he has trained some of the most prominent physicians/scientists in
the DBA field including Drs. Jeffrey Lipton and Blanche Alter.
The next phase of the ASH meeting was a series of concurrent
symposia on various topics where shorts talks were given by
individuals whose abstracts were selected for oral presentations.
Additional research was presented at poster sessions held on
Saturday, Sunday and Monday evenings. I believe there were over
4,000 posters presented at this year's meeting, and no, I didn't
view them all. There were however, several posters on DBA-related
research many of which will likely be the topics of future Journal
Clubs.
Monday, December 12
Monday saw the concurrent symposia continue. Again the day was
broken up by special lectures for all attendees. The E. Donnall
Thomas lecture Monday morning was given by Dr. George Q. Daley
who discussed his work on induced pluripotent stem cells (IPSCs).
Interestingly, to demonstrate how these cells could be used to
study the pathophysiology of human disease and develop new
treatments for genetic disorders, Dr. Daley used our sister
inherited bone marrow failure syndrome Shwachman Diamond
syndrome as an example, but also mentioned his ongoing efforts in
developing IPSCs for DBA research.
Monday afternoon included a session on bone marrow failure in
Diamond Blackfan anemia and paroxysmal nocturnal
hemoglobinuria. This session included 3 talks on DBA. The first
was by Pekka Jaako from Stefan Karlsson's laboratory who
provided additional details on their mouse model of DBA including
the effects of leucine in ameliorating the anemia observed in these
mice. This was followed by a talk from Tracie Goldberg from Dr.
Johnson Liu's laboratory who spoke on p53 activation and
subsequent effects on developmental programs in a mouse
embryonic stem cell model of DBA. The last of the DBA talks in
this session was from Jessica Moetter who spoke on gene discovery
in DBA patients in the German DBA registry. While no new genes
were reported, they did identify a number of genes through
deletion analysis indicating that DNA sequence analysis alone is
insufficient for identifying genes affected in DBA patients.
Tuesday, December 13
I began this note by stating that I hoped to convince you that DBA
was front and center that this year's ASH meeting. I think I've
covered the front and center, but what I neglected to mention was
that DBA also figured prominently at the end of the meeting. Now
I have to admit that I flew out early Tuesday morning so was
unable to attend the Presidential Symposium on Bone Marrow
Failure Syndromes. But had I attended, I would have heard Dr.
Ben Ebert's talk on ribosome dysfunction as a cause of bone
marrow failure. Dr. Ebert's recent work relevant to DBA has been
discussed twice in newsletter articles this year so you can bet that
DBA figured prominently in his talk.
The presence of DBA in many high profile talks at this year's ASH
meeting brings me back to Sarah Ball's quote "The floodlights of
science have brought it (DBA) into the public gaze." Certainly the
science surrounding the underlying basis of DBA has caused it to
be elevated in the hematological public's eye seemingly
disproportional to the number of people affected by this rare
disease. The reason for this scientific interest is evident in Ben
Ebert's work where he has shown that 5q- a subtype of
myelodysplatic syndrome can be considered an acquired form a
DBA. This has caused others in the MDS field to look more closely
at ribosome synthesis, where is may be involved in other forms of
this disease as well. The importance of the spillover of DBA to the
MDS field is that the MDS field is much larger and brings
additional investigators and resources to topics relevant to DBA.
Of particular importance in this regard is in therapeutic
development. MDS typically affects individuals in the 60s and 70s
and affects a much larger number of people than DBA. This
provides a much larger patient population willing to participate in
clinical trials of new drugs aimed at addressing the refractory
anemia frequently observed in these syndromes. Lenalidomide is
one such drug that has proven effective in treating the refractory
anemia observed in 5q- syndrome and other drugs showing
encouraging effects in MDS patients were also reported at this
year's meeting. While not all drugs developed for an older
population base may be suitable for the pediatric population, these
studies in MDS provide important information and clues for
individuals working on new treatments for DBA.
So while the glass may be half full in terms of translating DBA
research to new treatments, I agree with Sarah Ball completely that
this glass is rapidly filling.
Editorial note - space limitations prevent me mentioning all the other
DBA-related research discussed at this year's meeting including other
areas of hematological research that have been impacted by the rapid
advancements in the DBA research field. My apologies to those
investigators whose research I couldn't specifically highlight here.