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| Winter 2010 - Volume 2 | Dedicated to Education, Advocacy, and Research |
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Welcome, MDF Community!
Welcome to the Myotonic Dystrophy Foundation Community Connections eNews.
I am excited to announce the dates and location of the MDF Family Conference. We hope you will join us August 13-15, 2010 in Minneapolis, Minnesota. Read on to learn more about our plans for this family focused conference.
Finally, I want to personally thank the McKool, Fitzpatrick and Vassallo families for their extraordinary effort to raise funds for myotonic dystrophy research. I had the pleasure (and pain) of running (at least most of) the Austin Half Marathon with the "Running For Jack" team and was there to celebrate their achievement of raising over $75,000 for the foundation. For inspiration, read the full story below.
We always look forward to hearing 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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Save the Date - 2010 MDF Myotonic Dystrophy Family Conference
On August 13-15, 2010, the MDF will host a family conference in association with the University of Minnesota in Minneapolis. The conference is being held at the The Hilton Minneapolis/St. Paul Airport - Mall of America. "Save the Date" cards will be sent out soon so keep an eye out for more details to follow by postal mail. If you would like to join our mailing list to receive more information about the conference or to receive medical information from the foundation, please sign up on our website.
MDF Awards $100,000 "Fund-A-Fellow" Grant to Dr. Cameron Hilton
The Myotonic Dystrophy Foundation is pleased to announce the 2010 - 2011 winner of the $100,000 "Fund-A-Fellow" postdoctoral fellowship grant. The award goes to Dr. Cameron Hilton, Ph.D., a postdoctoral fellow at the University of Oregon, working with principle investigators, Dr. Andrew Berglund and Dr. Michael Haley. Dr. Hilton's research, "Small Molecule Therapeutics Based on Pentamidine for the Treatment of Myotonic Dystrophy", aims to modify the existing drug, pentamidine to use as a safe treatment to eliminate the symptoms of myotonic dystrophy.
Today, pentamidine carries approval of the U.S. Food and Drug Administration for treating a severe type of pneumonia in people with weakened immune systems, as well as leishmaniasis, sleeping sickness and some yeast infections. Researchers have discovered that levels used successfully in experiments in mice would be toxic in humans so modifications must be made to this compound. Dr. Hilton's work is focused on finding better pentamidine analogs that are promising as a therapeutic compound for myotonic dystrophy.
The MDF expects the funded research to complement the existing efforts
of the National Institutes of Health (NIH), the Centers for Disease
Control (CDC), the Muscular Dystrophy Association (MDA) and other
governmental and philanthropic agencies.
"Running For Jack" Raises Over $75,000 for Myotonic Dystrophy Research
 On Valentine's Day, 30 runners lined up at the start line of the Austin Half Marathon to raise awareness and money for myotonic dystrophy research. Their biggest cheerleader was 5 year old Jack Vassallo Fitzpatrick and the team's biggest fan was the MDF. After all, these folks were "Running For Jack" and in doing so, they raised $75,000 for the Myotonic Dystrophy Foundation's research programs.
Led by Jack's grandmother Mollie McKool, and his parents, John Fitzpatrick, an MDF Board Member, and Kristen Vassallo, the family set out with a simple goal - to appeal for help and support for research into a cure for myotonic dystrophy, a condition affecting Jack and thousands of people world-wide.
How did they do it? First, they picked a fun event that their family could rally around; in this case it was the 2010 Austin Half Marathon. Then, they reached out to family, friends and business associates, shared Jack's story and simply asked people if they would contribute. They did and then they reached out to their family, friends and business associates and nearly 300 donations later, they far exceeded their original goal of raising $10,000. And all along the way, they had fun! Wearing matching t-shirts, hats and carrying signs, every runner and spectator along the course knew this team was running for Jack and myotonic dystrophy research. See more photos from the event.
So to the McKool, Fitzpatrick and Vassallo families and the runners and donors along the way, a hearty thank you from the MDF. This event shows what one family can do to make a difference. Now, we ask you one simple question - what can you do to improve the lives of people living with myotonic dystrophy?
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Researchers Trace Effects of Genetic Defect in Myotonic Dystrophy
SANTA CRUZ, CA (January 25, 2010) -- Research on the genetic defect that causes myotonic muscular dystrophy has revealed that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins.
A study published in Nature Structural & Molecular Biology shows that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role.
Each of the affected proteins interacts with an array of genes that are active in muscle cells and other tissues, said coauthor Manuel Ares, professor of molecular, cell, and developmental biology at the University of California, Santa Cruz. The study reveals a cascading sequence of molecular events in which a mutation in one gene ends up affecting hundreds of other genes and the physiological processes that depend on them.
"This is a genetic disease in which there isn't just one gene that is affected," Ares said. "Our hope is that by chasing down more of the affected genes we might be able to figure out how to address more of the symptoms."...read more
Enzyme Block Reduces Death in Mice with Myotonic Dystrophy
HOUSTON, TX (November 9, 2009) -- Using drugs to block the action of an enzyme called protein kinase C can reduce or even eliminate heart problems in mice with myotonic dystrophy, said researchers from Baylor College of Medicine in a report that appears in the Journal of Clinical Investigation.
"The disease is very severe in these mice," said Dr. Thomas Cooper, professor of pathology and molecular and cellular biology at BCM and senior author of the report. "Eighty percent of them die within three weeks of turning on the mutation. If we give an inhibitor of protein kinase C, less than 20 percent die."
Myotonic dystrophy type 1 is the second most common form of skeletal
muscle disease, behind Duchenne muscular dystrophy. While most people
think of it only as affecting skeletal muscle, it also adversely affects
the heart and brain, said Cooper.
Myotonic dystrophy is caused by a mutation that contains hundreds and
even thousands of repeats of the nucleotides CTG within a gene called
DM kinase protein gene or DMPK. [Cytosine (C), thymine (T), guanine (G)
and adenine (A) are all nucleotides that make up DNA. C, G, A, and
uracil (U) make up RNA.] In the mouse that Cooper and his colleagues
specially bred, the mutated gene can be turned on in heart, skeletal
muscle and brain tissue at any age. Turning on the mutation means that
the repeats are copied into RNA as in humans, and the mice reproduce
disease features that are seen in humans...read more |
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Remembering Edward Julius Gunderson 1939 - 2009
The myotonic dystrophy community has lost a dear friend and champion in the fight to cure myotonic dystrophy. Edward Julius Gunderson died on December 11, 2009, after a long and courageous struggle with this disorder. Ed was truly a man with a vision. Diagnosed at the age of 48, doctors gave him just seven years to live. Twenty two years later, Ed leaves a legacy of hope and determination.
When Ed and his wife, Alice first got Ed's diagnosis, they did not know of anyone else living with the disorder. That would soon change. With the help of the Muscular Dystrophy Association and other volunteer families, Ed helped to organize a myotonic dystrophy support group, the Myotonic Dystrophy Assistance and Awareness Support Group (MDAASG) in Los Angeles, California. A decade later, the group has expanded to several groups across the U.S. and hosts a weekly online chat, publishes a newsletter and holds an annual myotonic dystrophy research fundraiser. The MDAASG has also been instrumental in coordinating an annual myotonic dystrophy family conference for the last nine years. Alice, who also serves on the Board of Directors for the MDF, worked tirelessly with Ed, even when he was not able to do so himself.
In living through the challenges of myotonic dystrophy, Ed proved that it is not a terminal diagnosis but one that is chronic and progressive. He taught us that with a carefully selected team of care providers, family support and encouragement, and proper management of the disorder's symptoms, an individual diagnosed with myotonic dystrophy can still live a full life.
Ed would want us to know that one man's ideas combined with the ideas and spirit of others equal the power and force that will one day make this disorder, "a disorder of the past." Our lives have been enriched by Ed and Alice, and the myotonic dystrophy community together can honor this legacy by each doing our part to help make their dream a reality.
The Conte Family: “Live One Day at a Time, Laugh Often and Love Generously”
 Life was a picture of good health for the Conte family of Northern Florida until the birth of their second child, Katherine Elizabeth, known as Kate. Kate appeared healthy until sixteen hours after her birth, when she experienced a serious choking episode and was transferred immediately to the NICU at Wolfson Children’s Hospital in Jacksonville, Florida. Over the weeks and months, Kate was treated for hypotonia, poor feeding, and a club foot. On Kate’s 3-month birthday, she was diagnosed with congenital myotonic dystrophy.
Parents David and Elizabeth admit the first seven days after diagnosis were awful. Then, they decided they couldn’t live life in depression and mourning. Instead, they would focus on doing everything in their power to make sure their daughter had the best care possible. Elizabeth connected online with Lisa Vittek and the Conte’s soon became part of the MDF family. David, Elizabeth and Kate attended the Family Conference in Los Angeles last October. Elizabeth says the experience was invaluable; hearing the latest research news from those at the forefront of the field, attending the breakout sessions, and meeting and making so many new, wonderful friends.
Now, Kate is 9 months old and improving every day. She receives ninety minutes of physical therapy and an hour of speech therapy each week. Elizabeth says “It’s been a rollercoaster ride, emotionally speaking, but we try to live our lives by our new mantra: “live one day at a time, laugh often and love generously.” She continues, “We believe that Kate is a special gift and that her sweet and gentle disposition will help her find grace as she grows and learns so many new things in life.” David admits that at times, it’s hard to balance everything, especially for Kate’s big brother Charlie. Kate get’s so much attention and they have to be sure he gets enough of his parent’s time too. They note that Charlie dotes on Kate and is the first to sooth her with a song when she cries.
 The Conte’s have always been active philanthropists, raising funds and donating time to organizations like Children’s Miracle Network, American Heart Association and Susan G. Komen Race for the Cure. It’s a a trait that David’s grandmother (93 years young) instilled in him. Their efforts are now focused on raising awareness and funds for myotonic dystrophy. The family is encouraged by the hopeful news this year about potential therapies and they want to do their part in helping Kate get closer to a cure.
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Myotonic Dystrophy Foundation
10016 Foothills Blvd., Suite 130
Roseville, CA 95747 USA
www.myotonic.org
info@myotonic.org
86-MYOTONIC (866-968-6642) |
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