DMRF eNews
February 2009
Genetic Research Leads to New Discovery
A study led by Laurie Ozelius, PhD at Mount Sinai School of Medicine has
identified a gene associated with the development of primary torsion
dystonia, also known as DYT6 dystonia. With funding provided by the
Dystonia Medical Research Foundation (DMRF),Dr. Ozelius and her colleagues
have found that mutations in the THAP1 gene cause DYT6 dystonia in
Amish-Mennonite families, as well as in other ethnic groups.
Since the pathogenic mechanisms of primary torsion dystonias are very
poorly understood any new information about genetic causes of these diseases
is desperately needed to facilitate new studies toward the understanding of
those mechanisms. The newly discovered DYT6 gene and protein can now be used
as drug discovery targets.
“Primary torsion dystonia are rare and devastating diseases,” explains
the Foundation’s Science Office, Dr. Jan Teller. “This is the second
gene identified for this type of dystonia. Its discovery will greatly
contribute to our knowledge about molecular mechanism of all
the dystonias.”
“We are greatly excited about Dr. Ozelius’s findings, as they will help
us to better understand the many different factors responsible for this
puzzling and disabling disorder,” says Dr. Mahlon DeLong,
Scientific Director of the Foundation. “Dr. Ozelius has been a pioneer in
genetic research on dystonia and we are grateful for her unwavering
commitment to this and the broader dystonia community.”
“I am grateful to the Foundation for their support of this research,”
adds Dr. Ozelius. “The DMRF has supported gene identification studies
throughout its history and has been a leader in recognizing that
these studies represent an important first step leading to molecular
insights into the disease.”
Let's not stop here!
None of this would have been possible without your support!
In January, we announced the launch of our Dollar a Day for Dystonia
Campaign asking everyone to personally raise or give $365.
Consider making a commitment to your own health and well being as well as
to research. We've come so far but still have a long way to go.
If you think about it, $1 a day is a sacrifice that many of us can achieve.
Forgo that morning latte. Walk to work instead of driving your car. Pack
your lunch. Whatever you decide to do, know that through your sacrifice,
this goal is achievable. While we know that this amount is not feasible for
everyone, any amount is acceptable from $3.65 to $3,650!
Make your commitment to DMRF and to research. As you have read, we are
making headway. Are you up to the challenge?
[https://mightysite2.securesites.net/www.dystonia-foundation.org/pages/donate_form/189.php]
My Dollar a Day Commitment
Looking for an easy way to start making a difference with the Dollar A Day
for Dystonia campaign?
Text DMRF to 90999 today
to make a $5 donation.
A one-time charge of $5 will be added to your mobile phone bill.
Standard messaging rates and additional fees may apply. All charges are
billed by and payable to your mobile service provider. Proceeds benefit the
Dystonia Medical Research Foundation. Service is available on most
carriers. You can unsubscribe at any time by texting 'STOP' to 90999.
Bringing Science to Life - the Discovery of DYT1
You have just heard about the identification of the DYT6 gene. Hear
from Laurie Ozelius, PhD about her work with fellow investigator
Xandra Breakfield, PhD to identify the DYT1 gene. This gene is associated
with early onset generalized dystonia and has become a cornerstone in
dystonia research.
[http://www.dystonia-foundation.org/pages/finding_the_dyt1_gene/511.php]
We welcome your feedback. If you have any questions, comments or
suggestions, please email them to
[mailto:enewsletter@dystonia-foundation.org?subject=Bringing%20Science%20to%20Life]
enewsletter@dystonia-foundation.org.
Stay Tuned: DBS Reunion in April
Deep Brain Stimulation for Dystonia Symposium
April 17-18, 2009
Nashville, Tennessee
Co-sponsored by the
Dystonia Medical Research Foundation & DBSforDystonia Bulletin Board
Meeting Information
The Deep Brain Stimulation for Dystonia Symposium will take place at the
Embassy Suites Nashville at Vanderbilt in Nashville, Tennessee,Friday April
17 and Saturday April 18, 2009.
Registration Fees
Before March 21 - $50 per person
After March 21 - $75 per person
Register online today at
[http://www.rsvpbook.com/event.php?484522]
http://www.rsvpbook.com/event.php?484522
Come join us online!
The DMRF is excited about our presence on the online social network scene.
Stop by and check us out!
[http://www.youtube.com/user/cemiwire]
[http://twitter.com/dmrf]
[http://myspace.com/thedmrf]
[http://thedmrf.ning.com/]
Go-Go Motorized Scooter
DMRF was recently contacted by Chris Hill of NJ whose father passed away
this past July. His Father used a Go-Go Brand Motorized Scooter and Chris
would like to donate it another dystonia-affected individual. Chris
mentioned that he knows that his Father would be happy to know that he
is helping another individual with dystonia improve their lifestyle with
this scooter.
If you are interested please contact Chris directly at
[mailto:CHill@hilmanrollers.com?subject=I%27d%20like%20more%20information%20about%20the%20scooter]
CHill@hilmanrollers.com
Lead Us Closer to a Cure
Contact us today to find out what is involved in becoming a registered
brain donor. The study of brain tissue from both those who have dystonia,
and those who are not affected, provides precious and unique information to
dystonia researchers. This leads to a better understanding of this complex
disorder, to the development of new and innovative treatment therapies, and
that much closer to a cure. DMRF partners with the NICHD Brain & Tissue
Bank at the University of Maryland and those wishing to become brain donors
register through them. There is no cost to participate to either to
the donor or his/her family.
For more information, please contact Martha Murphy, Brain Bank Liaison at
[mailto:brainbank@dystonia-foundation.org]
brainbank@dystonia-foundation.org or phone 800.377.3978.
Please make sure that you provide your full legal name, postal mailing
address, phone number(s), and your e-mail address if you have one so that we
can communicate with you and send you information.
Calling Persons with OMD
The Oromandibular Dystonia (OMD) Network is re-energized and looking
forward to a very productive and supportive 2009. If you have OMD and would
like to join this informal networking group please contact group leader
Larry Stahl by phone at 860-233-1965 or by e-mail at
[mailto:artscifi2@sbcglobal.net] artscifi2@sbcglobal.net
The network provides guidance,support, education and one-on-one help via
computer, phone, and mail to others with OMD. We welcome you to share
experiences and work to improve the quality of life for persons with one of
the rarest forms of dystonia.
Mark Your Calendars
March 21, 2009 - Freedom to Walk for Dystonia Walkathon (WA) - Marysville
Pilchuck High School Stadium Track
[http://www.geocities.com/sharonstandish@ymail.com/walkathon.html]
www.geocities.com/sharonstandish@ymail.com/walkathon.html
April 16, 2009 - Watch What Happens! When Omaha Meets New York City (NE) -
Holland Performing Arts Center
[http://www.omahaperformingarts.org/tessitura/production.aspx?perf=2971]
http://www.omahaperformingarts.org/tessitura/production.aspx?perf=2971
April 20, 2009 - 2nd Annual Curtain Call for a Cause (NJ)
More information to follow!
April 24, 2009 - Return to Margaritaville 3 (MA) - Danversport Yacht Club
More information to follow!
May 2, 2009 - Freedom Ride for Dystonia (MD) - Old Glory Harley-Davidson
[http://freedomride4dystonia.wordpress.com]
http://freedomride4dystonia.wordpress.com
Dystonia Advocacy Day - May 5 & 6, 2009
The Dystonia Advocacy Coalition* invites you to participate in Dystonia
Advocacy Day in Washington, D.C.on May 5-6, 2009. The goal of this day is
to inform our legislators about dystonia and how it has affected our lives.
To register for Advocacy Day or receive more information please e-mail
[mailto:jmolski@dystonia-foundation.org?subject=Advocacy%20Day]
jmolski@dystonia-foundation.org or phone 888-346-3673.
* The DAC is comprised of the following Dystonia advocacy groups: Benign
Essential Blepharospasm Research Foundation (BEBRF), DySTonia, Inc.,
Dystonia Medical Research Foundation(DMRF), National Spasmodic Dysphonia
Association (NSDA), and National Spasmodic Torticollis Association (NSTA).
From all of us at DMRF, Happy Valentine's Day!
Tell us how we are doing. We would love to hear your thoughts about the
newsletter. Email us today at
[mailto:enewsletter@dystonia-foundation.org?subject=Feedback%20about%20eNews]
enewsletter@dystonia-foundation.org
Would you like to receive updates by text message?
Text DYSTONIA to 90999.
Contact Information
One East Wacker Drive, Suite 2810
Chicago, Illinois 60601
800.377.3978
[mailto:enewsletter@dystonia-foundation.org?subject=Questions,%20comments%20or%20concerns]
enewsletter@dystonia-foundation.org
[http://www.dystonia-foundation.org] www.dystonia-foundation.org
© 2008 DMRF
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