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MDA NEWS

ALS Therapy Development Institute President
Succumbs to ALS

Sean Scott

Sean Scott, president of the ALS Therapy Development Institute (ALS TDI) in Cambridge, Mass., lost his life to the disease on Feb. 9. He was 39. Scott, who had the familial, or inherited, form of ALS (amyotrophic lateral sclerosis), joined ALS TDI in 2001, before his diagnosis, in hopes he could facilitate finding a treatment, if not a cure, for the disease. His motivation included the fact that his late mother also had ALS.

In an e-mail written to close friends and relatives not long before his own death, Scott wrote, "ALS is a hell of a disease. It's both surreal and horrifying to watch as muscles fail, and with them skills you spent a lifetime developing simply disappear. I'd trade every minute I've got left for just one more chance to run across the tennis court and crack a forehand."

In 2007, MDA's Augie's Quest research initiative and the ALS TDI entered into a historic three-year, $36 million research collaboration.

"All of us who were privileged to know and work with Sean are profoundly saddened to learn of his death," said MDA President and CEO Gerald C. Weinberg. "Had it not been for Sean's vision and dedicated hard work, ALS TDI — which has given rise to our largest and most promising ALS project ever — might never have become the most powerful existing source of hope for the thousands with ALS and their loved ones."

Major League Baseball Supports ALS Research

On the 70th anniversary of Lou Gehrig's famed farewell speech at Yankee Stadium, Major League Baseball (MLB) will pay tribute to and raise research funds in memory of the legendary slugger whose name has become synonymous with ALS. As part of its charitable campaign, 4♦ALS Awareness, MLB on July 4 will have each of its home teams across the country host an on-field reading of Gehrig's farewell message. All players will wear a 4♦ALS Awareness patch on their uniforms. In addition, MLB will conduct an online auction to raise funds for the battle against this disease, which strikes down and kills adults, like Lou Gehrig, in the prime of life.

MLB is conducting the campaign in conjunction with MDA's Augie's Quest research initiative, the ALS Therapy Development Institute, The ALS Association and Project A.L.S.

Inspiration for the campaign came from Michael Goldsmith, 58, of Heber City, Utah, who received an ALS diagnosis in 2006. Goldsmith is a member of MDA's Salt Lake City Muscle Team and active in other MDA programs. A baseball fan, Goldsmith wrote an opinion column for Newsweek magazine in November 2008, urging baseball to do more to combat the disease that felled one of its all-time greats.

Celeb Ambassador Stays in the Spotlight

Ace Young

Ace Young, an MDA celebrity ambassador, continues to enjoy a prominent spot in the public eye. The popular singer, Grammy-nominated songwriter, actor and "American Idol" finalist renews his relationship with the show as co-host of "American Idol Extra" on the Fox Reality Channel. With show host Jillian Reynolds, Young will conduct exclusive interviews with the top 10 "American Idol" finalists immediately after they're eliminated from competition. Young also will go backstage to interview judges, producers, make-up artists and vocal coaches about what it takes to get contestants ready for their performances on stage. The role will dovetail nicely with Young's other appearances on stage and at celebrity venues in behalf of MDA. "American Idol Extra" will air for the first time on March 26 at 10 p.m. Eastern. Thereafter, it will air on Thursdays at 7 and 10 p.m. Eastern.

Art Collection Adds Two Striking Paintings

Hanging Out II

Two oil paintings by Sybil Ross Kleiman of Coconut Creek, Fla., have been accepted into the Muscular Dystrophy Association's Art Collection Kleiman's "Hanging Out II" and "Hanging Out III" are large, striking oils depicting laid-back, casually attired young men — one chatting on a pay phone and the other watching passersby while having coffee in a café. Kleiman, who has myasthenia gravis, is a well-known art historian, lecturer, teacher and adjudicator. She is listed in "Who's Who of American Women" and was a New York Times featured artist.

Hanging Out III

The MDA Art Collection was established in 1992 to focus attention on the achievements of artists with disabilities and emphasize that physical disability is no barrier to creativity. The permanent Collection comprises some 350 works by artists ages 2 to 82 and represents all 50 states. Each artist is affected by one of the 40-plus muscle diseases in MDA's program.

RESEARCH NEWS

MDA Venture Philanthropy Boosts Research Programs

MDA is now one of several U.S. nonprofits employing an exciting concept known as "venture philanthropy" to raise funds for major medical and scientific research projects. MDA Venture Philanthropy (MVP) was launched in January to apply business principles and practices to the world of research, with the goal of turning promising research into practical treatments for the more than 40 diseases in its program. The research efforts that MVP will fund are totally distinct from MDA's other, ongoing research programs.

Using the venture philanthropy model, MVP will identify the most promising current research projects and move them to the next phase of development by attracting philanthropists who can make the large gifts needed to commence the drug development process. MVP is starting off by channeling donations into four research portfolios that have the highest possibility of success: ALS, Duchenne muscular dystrophy, spinal muscular atrophy, and a combination of neuromuscular diseases such as Friedreich's ataxia and myotonic muscular dystrophy.

To learn more about the MVP model and research portfolios, visit the new MVP Web site.

Mouse Defects Suggest New Mechanism in EDMD

In Emery-Dreifuss MD, defects in lamins or emerin, proteins that are near each other inside each muscle-cell nucleus, are known to cause abnormalities in skeletal and cardiac muscle tissue. The precise mechanisms by which they do this are now being worked out.

Studies under Tom Misteli at the National Cancer Institute of the National Institutes of Health in Bethesda, Md., indicate that — in mice with a disease resembling one form of Emery-Dreifuss muscular dystrophy (EDMD) — certain protein defects may interfere with how skeletal muscle fibers receive signals from nerve cells at neuromuscular junctions. MDA grantee Howard Worman at Columbia University, who has conducted several studies of the molecular consequences of EDMD, cautions that heart muscle cells, which can be severely affected in EDMD, do not have neuromuscular junctions, demonstrating that a different disease mechanism exists in these cells.

Mutations in FUS Gene are a Cause of Familial ALS

Two international research teams have each confirmed that mutations in a specific human gene (known as FUS) are the cause of one type of familial ALS. Most instances of ALS are not familial (inherited), so the finding applies to only 0.3 percent to 0.5 percent of all ALS cases. However, the identification of a new gene is likely to shed light on additional mechanisms underlying ALS, lead to the creation of new rodent models for the disease and potentially lead to identification of new therapeutic avenues.

A combined U.S./Canadian research group included MDA grantee Guy Rouleau at the University of Montreal, and Robert Brown, now at the University of Massachusetts School of Medicine in Worcester, but formerly an MDA grantee and director of the MDA/ALS Center at Massachusetts General Hospital in Boston. The second team was based in the United Kingdom and Australia.

Mutated FUS molecules tend to clump together in a form correlated with degeneration of nerve cells in ALS.

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