February 3, 2000

REGARDING MDA'S LONG-TERM FOCUS ON BASIC RESEARCH

Jeffrey S. Chamberlain is professor of human genetics at the University of Michigan in Ann Arbor. He's also a long-time MDA grantee (that is, a scientist whose research work is supported by funding from MDA) and has become one of MDA's pre-eminent investigators in our Association's nationally coordinated effort to develop gene therapy as a way of treating neuromuscular diseases.

Ground-breaking work done by Chamberlain's team at U of M has included the creation of a "gutted" virus with its own viral genes removed in the hope of making it a viable delivery system for a gene which is normally responsible for the production of a protein needed for healthy muscles, dystrophin.

Muscle cells of individuals affected by the Duchenne (DMD) and Becker (BMD) forms of muscular dystrophy have defective versions of the dystrophin gene, which was identified by MDA-funded scientists back in 1986. Muscle wasting, which results from the absence or deficiency of the needed protein, could theoretically be halted by successful insertion of healthy dystrophin genes. Complications arising from interference from the human immune system need to be solved before human trials of gene therapy for DMD and BMD can be undertaken.

Jeffrey Chamberlain of the University of Michigan credits MDA with helping him decide to pursue muscle disease research as his life's work.

According to a recent article about him in a journal titled Medicine at Michigan, Chamberlain says that while he was in graduate school he was surprised -- and inspired -- by the fact that MDA supported the kind of basic, pre-clinical research he was interested in pursuing.

"This was considered basic research in its purest form," Chamberlain says in the article. "So I was amazed to find out that it was heavily funded by the Muscular Dystrophy Association."

Chamberlain goes on to say: "The organization (MDA) felt it was important to learn as much as possible about normal muscle biology in the hope that it would lead to greater understanding of the muscular dystrophies. Knowing that they were supporting research that didn't have an obvious link to diseases piqued my interest. They're one of the few organizations in the world that has been willing to invest 20 or 30 years ahead of time to try to achieve a goal."

In fact, dating back to our Association's founding in 1950, MDA has been a fervent believer in the notion that, in order to understand what happens in a muscle disease, we must also understand normal muscle function. Little was known about muscle itself, let alone muscle disease, prior to MDA's existence. Thankfully, that situation has changed drastically.

In a 1950s publication, when our organization was known as MDAA, the Muscular Dystrophy Associations of America, scientist Sister Maria Benigna, professor of biology at St. Joseph College in West Hartford, Conn., was quoted as saying: "Why is research such a large part of the program of MDAA? First of all, because right now our knowledge of muscular dystrophy is meager. We know what it does to the patient. We can look on, but know not what to do. We can see that something has gone dreadfully wrong, but what that something is has yet to be found."

Today, we can credit MDA's belief in a program of basic research for the fact that the genetic cause of DMD and BMD has been found. Of course, MDA is also deeply committed to supporting research done with proper safety protocols on human subjects in a clinical setting. We know both kinds of research will be critically important as scientists continue to develop gene therapy and other promising concepts that will lead to treatments for various forms of muscular dystrophy and related neuromuscular disorders.

As I contemplate the very promising state of current research, I offer a nod of admiration to MDA's founders. Thank goodness they understood that by continually expanding basic understanding of muscle biology, we couldn't help but forge the tools that will one day allow us to conquer muscle-wasting diseases and put a final halt to their more destructive effects.

With every best wish . . .

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