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February 2008MDA NEWS RESEARCH NEWS Pass it along! |
Welcome to the MDA® e-update, the Muscular Dystrophy Association's online newsletter that reports MDA's research breakthroughs and other information to friends whose support helps to make our programs possible. MDA NEWS
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MDA's newest National Goodwill Ambassador is a bundle of smiles and bubbling energy from Redlands, Calif. She's 8-year-old Abbey Umali, a third-grader who has a form of muscular dystrophy. Abbey loves to read, sing, swim, play the piano and act in plays. She hopes to become a veterinarian. She and her parents will travel the country throughout 2008, participating in special events, speaking with news media and representing MDA families affected by muscular dystrophy.
MDA's research, services and education programs assist people with muscular dystrophy every day, and that's why your continued support is so important to "Jerry’s kids." Make your donation today, and help MDA continue these vital programs in 2008. |
Sharing the Luck o' the Irish
MDA's 25th annual Shamrocks Against Dystrophy campaign launched in February and culminates on St. Patrick's Day. The program, which helps support MDA research and services, is the nation's largest St. Patrick's Day-related charity fundraiser. Thousands of retailers sell the green, gold and platinum Shamrock mobiles.
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Watch for displays featuring Shamrocks Chairperson Maureen McGovern and Abbey Umali at grocery stores, convenience stores, restaurants and other businesses in your community. To learn how your business can participate in the Shamrocks Against Dystrophy program, contact your local MDA office.
Highlights from Telethon '07 Now Online
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| Jerry Lewis & Ron Lucas |
Last year's Telethon was a wonderful mix of entertainment, philanthropy and the moving personal stories of families that MDA serves. Now you can see the best of the best on MDA's Web site. A 9-minute video shows clips of performances, interviews and the ever-amazing Jerry Lewis in his endless array of personalities.
New Chairs for Medical Advisory and
Scientific Committees
Leon Charash, a specialist in pediatric neuromuscular disease and longtime chairman of MDA's Medical Advisory Committee, has retired from that position. Replacing him is neurologist Stanley H. Appel, who was chairman of MDA's Scientific Advisory Committee. Appel heads the MDA/ALS Clinical Research Center at the Methodist Neurological Institute in Houston.
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| Louis M. Kunkel |
The new head of the Scientific Advisory Committee is Louis M. Kunkel, a professor of pediatrics and genetics at Harvard Medical School in Boston, where he's a Howard Hughes Medical Institute investigator. Kunkel also is a longtime MDA adviser and a former research grantee. Of his many scientific accomplishments, one of the most important was his discovery of the dystrophin gene which, when defective, causes Duchenne muscular dystrophy.
Dynamic ALS Volunteer Duo Returns
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Augie and Lynne Nieto of Corona del Mar, Calif., are now entering their third year as co-chairs of MDA's ALS Division. Through MDA's Augie's Quest research initiative, more than $12 million has been raised in two years to support aggressive research efforts targeting the devastating disease. In their role as spokespeople in 2008, they will raise awareness of MDA's ALS program through fundraising events, public appearances, news media interviews and public service announcements.
Camp Volunteers are in Demand
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Last year more than 4,400 children with muscular dystrophy enjoyed MDA summer camp at locations across the country and Puerto Rico. Rising costs recently pushed the price of camp from $650 to $800 a child, but the experience remains free to all kids who participate.
Now the Association is gearing up for a busy 2008 camp season, and volunteer counselors are needed to help out. One counselor is assigned to each camper to assist with daily needs and recreational activities for the weeklong sessions. To obtain a volunteer application, contact your local MDA office at (800) 572-1717 or via e-mail.
RESEARCH NEWS
Myozyme Improves Health in
Late-Onset Pompe Disease
Massachusetts biotechnology company Genzyme has found the synthetic enzyme Myozyme increased endurance and pulmonary function in people with late-onset Pompe disease, called acid maltase deficiency. Earlier studies showed the drug is effective in the infantile-onset form of the disease.
An 18-month study found participants treated with Myozyme could walk farther in a given period and had greater respiratory capacity than others given a placebo. Myozyme also was found to be as safe as the placebo.
MDA provided supplementary funding for the trial.
Guidelines for Anesthesia in DMD Released
MDA and the American College of Chest Physicians have released guidelines on how patients with Duchenne muscular dystrophy (DMD) should be managed when undergoing anesthesia or sedation.
The two organizations issued a consensus statement that lists more than a dozen recommendations, including using intravenous rather than gas anesthetics; providing respiratory support during sedation; and monitoring body carbon dioxide levels.
Trial in Netherlands Provides Encouragement for Exon Skipping in DMD
Results of clinical trials in the Netherlands in which four boys with DMD received injections of an exon-skipping compound have provided encouragement for researchers and families.
Exon skipping restores production of dystrophin (the protein lacking in DMD) by telling muscle cells to ignore/skip a part of genetic instructions that contain an error (mutation). None of the four boys had dystrophin in his muscles prior to the injections; a month later, all of them were producing the protein in small quantities.
MDA is funding researcher Judith van Deutekom in the Netherlands, Steve Wilton in Australia and many others to work on development of exon skipping for Duchenne muscular dystrophy (DMD).
Scientists Restore Muscle Relaxation in Mice
Researchers have found a method to restore normal muscle relaxation in mice with myotonic muscular dystrophy (MMD). The disease causes an inability to relax muscles after contraction.
Scientists at the Sen. Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at the University of Rochester (N.Y.), and others at the University of Florida (including MDA research grantee Maurice Swanson) injected the mice with a synthetic compound that changes the way muscle cells interpret genetic information. They found that even mice that had been affected with MMD for a long time got better after the injections, which may bode well for treating the human form of the disease.
Found: Second Flawed Gene that Causes SMA
Researchers at the University of Miami (Florida) and Technical University Munich (Germany) have found that flaws in a gene on the X chromosome cause a rare form of spinal muscular atrophy (SMA).
Most SMA cases are caused by mutations in another already identified gene on chromosome 5, but having a second gene identified will aid in development of better diagnostic tests and may ultimately improve understanding and treatment of SMA.
Research team leaders included Lisa Baumbach-Reardon, associate professor and head of the Neurogenetics Laboratory at UM, who received MDA support for the work.
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