Category Archives: Muscular Dystrophy Treatment

Contact Information Available for logged-in reporters only Newswise JUPITER, FL, September 2, 2014 In a new study that could ultimately lead to many new medicines, scientists from the Florida campus of The Scripps Research Institute (TSRI) have adapted a chemical approach to turn diseased cells into unique manufacturing sites for molecules that can treat a form of muscular dystrophy. Were using a cell as a reaction vessel and a disease-causing defect as a catalyst to synthesize a treatment in a diseased cell, said TSRI Professor Matthew Disney. Because the treatment is synthesized only in diseased cells, the compounds could provide highly specific therapeutics that only act when a disease is present. This means we can potentially treat a host of conditions in a very selective and precise manner in totally unprecedented ways. The promising research was published recently in the international chemistry journal Angewandte Chemie. Targeting RNA Repeats In general, small, low molecular weight compounds can pass the blood-brain barrier, while larger, higher weight compounds tend to be more potent. In the new study, however, small molecules became powerful inhibitors when they bound to targets in cells expressing an RNA defect, such as those found in myotonic dystrophy. Myotonic dystrophy … Continue reading →

A VIRTUAL race night has raised 1,700 for two Hampshire boys who suffer from a debilitating condition. Southampton youngster Josh, 5, and Ethan Twine, 7, have Duchenne muscular dystrophy, a rare condition which causes muscles to weaken and waste over time, leading to increasing disability. To raise funds for the Muscular Dystrophy Campaign, which funds research into the illness, parents Alex and Charmaine organised a race night at the Goals Soccer Centre on Millbrook Point Road, which included music and a barbecue. The money raised by the evening will be used to fund research into treatment. Charmaine said: I want to say a big thanks to them, without them we would not have been able to raise so much money. For more information about the charity, visit |muscular-dystrophy.org. Read the original here: Charity night supports two Hampshire brothers … Continue reading →

Nola Coyle, 8, of North Haven, and Emily Oronzo, 8, of West Haven, check out silent auction items at the Party for a Cure fundraiser at Zandri's Stillwood Inn in Wallingford on Sunday. | Molly Callahan/Record-Journal Published: August 31, 2014 | Last Modified: August 31, 2014 11:04PM By Molly Callahan Record-Journal staff WALLINGFORD Close to 300 people packed Zandris Stillwood Inn Sunday for the 18th annual Party for a Cure fundraisier. Through the years, proceeds from the event have reached more than $414,000, all of which goes to the Muscular Dystrophy Association, an organization devoted to finding a cure for neuromuscular diseases. Jim Zandri, owner of the Stillwood Inn, has organized the event since its inception. When I started doing this, I didnt really have any personal interest in it I didnt know anyone with the disease, Zandri said. But over the years Ive gotten to know families, and Ive realized that people depend on it, they depend on the research thats going on. Zandris goal this year, as always, is to raise at least a dollar more than last year. Its something of a lofty goal last year brought in more than $30,000. Most of the money comes from … Continue reading →

Researchers at the University of Minnesota have developed an animal research model for facioscapulohumeral muscular dystrophy (FSHD) to be used for muscle regeneration research as well as studies of the effectiveness of potential therapies for FSHD. The research is published in the current edition of the journal Cell Reports. There is no treatment for FSHD, which is thought by many to be the most common type of muscular dystrophy. FSHD is an unusual genetic disorder because, unlike most genetic diseases, it is not caused by the loss of a functional gene, but rather by the modification of an existing gene, through a genetic mutation. This mutation makes the gene more active so patients with FSHD express a protein, named DUX4, which interferes in an unknown way with muscle maintenance. "We felt that an animal model would advance progress towards a cure for FSHD for two reasons," said Michael Kyba, Ph.D., lead researcher and associate professor in the Medical School at the University of Minnesota. "First, it would allow us to understand what DUX4 does in muscle to cause muscle loss, and second, it would provide a system in which efficacy of potential therapies could be evaluated before they are tested … Continue reading →

Muscular Dystrophy benefit Garden City The Rockin for Muscular Dystrophy Association will host a benefit at the Towne Tavern 2504 6th Ave., in Garden City this weekend. The event will begin at 10 a.m. Sunday and continue into Monday with live music. Festivities will resume at 10 a.m. Monday. The event will include live music from Dokajovi, Shattered Halo, Union Gray and Wayne Francis. There will also be entertainment from Wayne & Wingnut, a live act that has done shows with Jeff Dunham. In addition the event will have food, games, a dunk tank, and a beer garden. The Rockin for MDA Association has been raising money to help people in northern Colorado afflicted with a variety of neuro-muscular diseases. The proceeds help with treatment, wheelchairs and living expenses. For more information, call (970) 392-0919 or (970) 371-4333. Go here to see the original: Labor Day weekend event will benefit Muscular Dystrophy Association … Continue reading →

PUBLIC RELEASE DATE: 28-Aug-2014 Contact: Caroline Marin crmarin@umn.edu 612-624-5680 University of Minnesota Academic Health Center MINNEAPOLIS/ST. PAUL (August 28, 2014) Researchers at the University of Minnesota have developed an animal research model for facioscapulohumeral muscular dystrophy (FSHD) to be used for muscle regeneration research as well as studies of the effectiveness of potential therapies for FSHD. The research is published in the current edition of the journal Cell Reports. There is no treatment for FSHD, which is thought by many to be the most common type of muscular dystrophy. FSHD is an unusual genetic disorder because, unlike most genetic diseases, it is not caused by the loss of a functional gene, but rather by the modification of an existing gene, through a genetic mutation. This mutation makes the gene more active so patients with FSHD express a protein, named DUX4, which interferes in an unknown way with muscle maintenance. "We felt that an animal model would advance progress towards a cure for FSHD for two reasons," said Michael Kyba, Ph.D., lead researcher and associate professor in the Medical School at the University of Minnesota. "First, it would allow us to understand what DUX4 does in muscle to cause muscle loss, … Continue reading →

Researchers at the University of Texas (UT) Southwestern Medical Center have developed a technique that corrects a mutation leading to Duchenne muscular dystrophy (DMD). The technique, called CRISPR/Cas9-mediated genome editing, removes the mutation entirely in mice, and could have far-reaching consequences in the treatment of muscular dystrophy in people. According to the Centers for Disease Control, DMD appears in approximately one out of every 3,500 male births in the US (but rarely appears in girls). It usually strikes before the age of six, often confining patients to a wheelchair before adolescence, with death generally before age 25. It is a severe form of muscular dystrophy caused by a mutation in a gene called dystrophin that leads to loss of function and strength, not only in voluntary muscles such as those in the arms and legs, but also (later) in the cardiovascular system. It has no cure and existing treatments focus on improving quality of life more so than on halting the progression of the disease. Using CRISPR/Cas9-mediated genome editing to precisely remove the mutation in DNA responsible for DMD, the UT team found that the mouse's DNA repair mechanisms replace it with a normal copy of the gene. Unlike other … Continue reading →

A mum whose son has a rare muscle-wasting condition says her family face a race against the clock to get the treatment he needs. Rachel Halpins three-year-old son, Harry, has Duchenne muscular dystrophy a condition that causes muscles to waste over time, leading to increasing disability and eventually causing life-threatening heart and lung problems. The 36-year-old, from Formby , is hopeful that one day a new treatment proven to slow down the ravaging effects of the disease will become available. But she is worried that, if one does come on the market, because of red tape or funding problems, it may be too late to help Harry. The Halpins are one of many hundreds of families backing the Muscular Dystrophy Campaigns Fast Forward scheme, which wants to ensure cutting-edge potential treatments for muscle-wasting conditions are not held up owing to lack of funds or drawn-out assessment processes. Mum-of-two, Rachel, who lives with retail business owner Gareth, 36, said: Theres not a cure, but trials are going on that are coming up with things that can slow its progression down which obviously gives you more time and hopefully in that time they will find a cure. This Fast Forward initiative is … Continue reading →

This article is by Debra Miller, cofounder and chief executive of CureDuchenne. How do you raise millions of dollars to help find a cure for a terminal disease that affects 300,000 boys worldwideand parlay that into more than $100 million in pharma and biotech R&D investment?When my beautiful five-year-old son was diagnosed with Duchenne muscular dystrophy 12 years ago, I wasnt sure, but I knew I had to do something to try to save him and the hundreds of thousands of other boys afflicted with the rare progressive muscle-wasting disease. I founded CureDuchenne with my husband, Paul, in 2003. We wanted to create a nonprofit business model that would allow us to help accelerate drug development for the treatment of Duchenne. We turned to the very few examples of venture philanthropy in existence for inspiration. Now three of the projects CureDuchenne funded are close to becoming the first drugs to be approved for the treatment of the disorder. We have just begun a new $7 million investment to speed the work along. Paul and Debra Miller with their son, Hawken. Venture philanthropy is a way nonprofit organizations can become self-sustaining while raising funding for new programs or projects. The nonprofit … Continue reading →

Members of Waskom Volunteer Fire/EMS will again be participating in the Annual Muscular Dystrophy Association Fill the Boot fundraising campaign on Labor Day, Monday, Sept. 1. The boot drive has been a community project of the Waskom VFD for a number of years and Waskom VFD members will be joining many other fire departments nationwide in raising money for MDA. Chief Murf King reports that VFD volunteers and emergency vehicles will be stationed at several major intersections in Waskom beginning around 8 a.m. Monday morning and the drive will last until around noon. Firefighters will be holding fire boots and will be asking that Waskom area citizens and persons traveling through the Waskom area make generous contributions to support MDA. Donations received will be turned in as part of effort to raise money for the Muscular Dystrophy Association. Monies raised in the Fill the Boot campaign help provide services and equipment to families in the ArkLaTex area and helps fund research projects aimed at finding causes, cures, and treatment for 43 neuromuscular diseases. More information on the local services provided by MDA can be obtained by calling Samantha Bower in the Ark-La-Tex MDA office at (318) 742-3632. Waskom area citizens … Continue reading →