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| Fall 2009 - Volume 1 | Dedicated to Education, Advocacy, and Research |
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Welcome, MDF Community!
Welcome to the inaugural edition of the Myotonic Dystrophy Foundation Community Connections eNews. With this newsletter, we plan to keep you informed of what is happening in the myotonic dystrophy community. This includes new developments in standards of care, research, advocacy initiatives, upcoming events, family stories and much more.
One of the new and exciting things we have been working on are video presentations from scientific researchers. Watch Dr. Charles Thornton, M.D. explain the basic science of myotonic dystrophy and Dr. Maury Swanson, Ph.D., describe recent development in therapies for myotonic dystrophy.
As researchers are now exploring potential treatments, it is more important than ever to empower ourselves as a community. I would like to encourage families living with myotonic dystrophy to join the MDF and receive a free "Family Empowerment Pack". Also, all affected and non-affected relatives are urged to sign up for the myotonic dystrophy registry in order to help expedite future clinical trials.
It is important that we work together in order to establish a voice and
a face for this disorder. Please feel free to email me with your ideas, stories, and feedback about what is most helpful to you as you navigate this complex disorder.
 Warm regards,
Lisa Vittek
Managing Director
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Two Lifetime Achievement Awards Given at IDMC-7
 The MDF was honored to present Shannon Lord, Former Chairman of the
Myotonic Dystrophy Foundation and Margaret Bowler, National Coordinator
for Myotonic Dystrophy Support Group in the United Kingdom, with the
Myotonic Dystrophy Foundation’s Lifetime Achievement Awards at a
ceremony held during International Myotonic Dystrophy Consortium (IDMC-7)
in Würzburg, Germany on September 9, 2009. The awards were presented by
Dr. Richard Moxley and Dr. Peter Harper, two leading researchers in the
field. The awards were our way of acknowledging Shannon and Margaret’s
long time advocacy on behalf of the myotonic dystrophy community
world-wide...more
Two $1,000 Excellence in Research Awards
Given at IDMC-7
 On the last day of the IDMC-7 conference, the MDF awarded its “Excellence
in Research” awards. These bi-annual $1,000 awards were established in
2007 to encourage scientists and researchers presenting abstracts for
the first time at this conference. The recipients were selected by a
panel of International peer reviewers for their work in advancing the
science of myotonic dystrophy. The MDF’s Managing Director, Lisa
Vittek, presented awards to Amanda Ward from Baylor College of Medicine,
in Houston, Texas, for her work “Testing the role of CUGBP1 in skeletal
muscle wasting in DM1” and Dr. Riccardo Perbellini, from Policlinico
San Donato, University of Milan for his work, “Aberrant expression of
microRNA’s in myotonic dystrophy.”...more
9th Annual Myotonic Dystrophy Family Conference A Success
The MDF was proud to be a part of the 9th Annual Myotonic Dystrophy
Family Conference in Manhattan Beach, CA, October 3-4, 2009. The coalition of
sponsoring groups brought important research updates, information about
diagnosis, treatment, and daily living issues to assist individuals living with
myotonic dystrophy, families, healthcare providers and the community. The
MDF sponsored the family workshops held on Saturday. These interactive breakout sessions focused on
specific needs of families living with myotonic dystrophy. Families and healthcare
professionals discussed best practices in three groups: congenital/childhood
myotonic dystrophy, myotonic dystrophy type 2 and caregivers. It is our hope
that everyone walked away from these workshops with new ideas, new friends, and
better informed.
 And this
year, the MDF co-sponsored Positive Exposure to capture images of the
families living with this genetic condition. Rick Guidotti, a former fashion photographer, founded Positive Exposure in 1997. It is
a non-profit organization that challenges the stigma associated with difference by
pioneering a new vision of the beauty and richness of genetic diversity. Positive
Exposure sprang from the conviction that art and media could improve the
quality of life of people living with genetic differences. We encourage you to
take some time to view the amazing photos on their website, www.positiveexposure.org.
The feedback from the conference attendees was amazing. "Rick
made me feel beautiful and his energy is incredible",
reported one conference attendee...more |
Development in Therapies for Myotonic Dystrophy - IDMC-7 Update
 The International Myotonic Dystrophy Consortium (IDMC) hosts
conferences every two years focusing on the latest developments in
myotonic dystrophy research. Since the last meeting (IDMC-6) in Milan
in September 2007, several pivotal discoveries have been made, and
expectations were therefore high when more than 250 scientists and 200
patients from 40 countries convened in Würzburg, Germany from September
9-12, 2009 for IDMC-7. The meeting also marked the 100th anniversary of
the description of myotonic dystrophy as a distinct clinical entity by
Hans Steinert at a hospital in Leipzig, Germany. Over four days, 75
oral presentations and 96 poster presentations covered basic research,
clinical aspects, current therapy, translational research,
rehabilitation and psychosocial issues of myotonic dystrophy. Open
dialogue with patients, family members and patient organizations in
both English and German was a highlight of the program...more
or see the video highlights of Dr. Charles Thornton, M.D. and Dr. Maury Swanson, Ph.D.
Small Molecule Inhibits Pathology Associated With Myotonic Dystrophy Type 1
Researchers at the University of Illinois have designed a small
molecule that blocks an aberrant pathway associated with myotonic
dystrophy type 1, the most common form of muscular dystrophy.
The new compound, soon to be tested in cells, binds tightly to its target,
an abnormally elongated RNA strand that hijacks part of the normal cellular
machinery and brings on symptoms of the disease. The newly developed
compound is the first to show high selectivity in binding the target
while not disrupting other important RNA functions. The study appears in the Proceedings of the National Academy of Sciences. Myotonic
dystrophy type 1, a muscle degeneration disease that so far is
untreatable, affects about one in 8,000 people worldwide. Some cases
are mild, but others lead to a debilitating loss of muscle control,
declines in organ function and other potentially life-threatening
conditions.
Scientists have recently identified a primary
causative agent of the disease, a mutant version of a gene, called
DMPK, which contains an excessive number of tri-nucleotide repeats.
Nucleotides are the chemical letters that spell out the sequence of a
gene, and the normal version of the DMPK gene includes five to 34
cytosine-thymine-guanine (CTG) repeats. The mutant version of the gene
includes 50 to as many as 10,000 CTG repeats...more
Photo: Chemistry professors Anne Baranger and Steven Zimmerman and their
colleagues designed a small molecule that prevents an abnormal RNA from
binding to a protein that normally splices other RNAs. Photo taken by L. Brian Stauffer.
TREAT-NMD/Marigold Registry Workshop
A workshop entitled Patient Registries and Trial Readiness in
Myotonic Dystrophy, organized by TREAT-NMD,
was held from June 12-14, 2009 in Naarden, The Netherlands. The twenty-six
participants, including Lisa Vittek from the Myotonic Dystrophy Foundation,
represented eight countries and included scientists, clinicians, patient
representatives and industry. The workshop built on the foundations established
in two previous ENMC workshops on myotonic dystrophy and the work of the
Natural Histories and Clinical Endpoints Working Group in Myotonic Dystrophy,
and took advantage of tools established within the TREAT-NMD network for
patient registries and outcome measures.
This meeting achieved an important goal in reaching consensus on
an international registry for myotonic dystrophy type 1 and in establishing a
mechanism for this to be taken forward. Harmonization of key patient data on an
international level is a timely initiative that will facilitate translational
research in DM1 by easing the path to move potential therapies into clinical
trials. This will also form a strong basis for additional collaborations
on natural history and outcome measures...more
Genetic Source of Myotonic Dystrophy Successfully Neutralized
Researchers at the University of Rochester Medical Center have found
a way to block the genetic flaw at the heart of a common form of
muscular dystrophy. The results of the study, which were published in
the journal Science on July 16, 2009, could pave the way for new therapies that
essentially reverse the symptoms of the disease.
The researchers used a synthetic molecule to break up deposits of toxic genetic
material and re-establish the cellular activity that is disrupted by
the disease. Because scientists believe that potentially all of the
symptoms of myotonic dystrophy, the most common form of muscular
dystrophy in adults, flow from this single genetic flaw, neutralizing it
could potentially restore muscle function in people with the disease...more
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Vittek Family Raises Awareness on MDA Jerrry Lewis Telethon
Lisa Vittek, MDF's Managing Director, her husband Jeff and daughter Kayla appeared on the 44th Annual Jerry Lewis MDA Telethon this past Labor Day.
 Kayla was born with the congenital form of myotonic dystrophy in 2005 and the Vitteks have told their story on the local Sacramento, California TV affiliate every year since then. However, this year they were selected to go to Las Vegas to share their story nationally. "Being able to tell our story at this level is such an honor. It's so important to raise awareness about this disorder, which is considered to be a genetic time bomb and hides in families for generations until many times, like it did in our family, is exposed by the birth of a congenitally affected child." This year's telethon raised over $60 million for neuromuscular disorders.
To learn more about Kayla and her family, visit Lisa's blog:
Cure For Kayla
Leon Quick Memorial Golf Tournament to Support Myotonic Dystrophy Research
 William "Jay" and Scott Quick of Sarasota, Florida have dedicated their annual golf tournament this year to support the Myotonic Dystrophy Foundation. Scott Quick is the half brother of Carly Hunt who many of you may have met on the MDF online community website or at the annual family conference in Manhattan Beach, California this past October.
There will be two events, one on December 11, 2009 with a silent auction and entertainment by Chuck "The Hitman" Hiter and will be hosted at Evie's Golf Center in Sarasota, Florida. The next day, on December 12, 2009, there will be a 4 Best Ball Shot Scramble golf tournament. The golf tournament will be held at the Bent Tree Country Club in Sarasota, Florida. The tournament is in honor of Jay Quick's father Leon Quick who passed away last month. Space is limited but if you would like to learn more about the tournament, contact Jay Quick at (941) 915-5763.
Running For Jack to Cure Myotonic Dystrophy
 Jack Vassallo Fitzpatrick – Jack-a-Roo to his friends – loves trucks, Bob the Builder, telling jokes, and especially his twin sister, Ellie.
Not so keen on chocolates and candy, though…he’s a bit of health nut. So rest assured, he will be on the sidelines cheering when his family and friends run the Austin Half Marathon on February 14, 2010 in his honor.
Their goal is simple – to appeal to you for help and to support research to find a cure for myotonic dystrophy, a condition effecting Jack and close to a million people worldwide. They'll be lacing up their running shoes, but more important than running, is support and donations – and that’s where you come in.
Please help by donating to the Myotonic Dystrophy Foundation in Jack’s name. Visit the Running For Jack website to learn more.
We encourage you to send us an email if you would like to host an event in support of the foundation. |
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We've Moved!
Myotonic Dystrophy Foundation
10016 Foothills Blvd., Suite 130
Roseville, CA 95747 USA
info@myotonic.com 916-788-2626
86-MYOTONIC 866-968-6642 |
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