A Career in DM Research
Bé Wieringa got in on the ground floor of research into the causes of myotonic dystrophy (DM). In 1984, following postdoctoral work in biochemistry and molecular biology, he came to Radboud University in Nijmegen, The Netherlands, which was then launching a program in human genetics.
“One of the genes that had not been discovered was the one for myotonic dystrophy,” Wieringa says. “We knew it had to be on chromosome 19, and we started out to identify its location.” At that time, there were a number of research groups working on this problem, and gradually these scientists, Dr. Wieringa among them, were able to locate and describe the gene and the mutation - the DNA repeats - that are now known to underlie the disease mechanism for DM.
Today Dr. Wieringa is the head of the department of cell biology at the Radboud Institute of Molecular Life Sciences and spends much of his time thinking about DM. “This disease touches on every aspect of molecular biology,” he says. “For a curiosity-driven researcher like me, it’s ideal. It stimulates me every day and keeps me going.”
The discovery of the DM gene in the 1990s gave rise to improved diagnosis and the possibility of genetic counseling, he says. “But while we had identified the mutation, we didn't know its cause. Nor did we understand the complex effects that the mutation has on functional integrity of cells, tissues and eventually health of patients. We’re still working on that today.” Dr. Wieringa’s own work focuses on the effects of the DM mutation on all kinds of cell types, with a particular focus on cell types tied to symptoms in patients. The goal is to give a better explanation of the disease and how it develops and progresses.
An International Meeting
Starting in 1997, many of the same scientists that worked to discover the DM gene organized themselves as the International Myotonic Dystrophy Consortium, or IDMC, and began meeting every two years to share research results. That first meeting was in Paris - as will be the tenth meeting this summer. MDF was honored to present Dr. Wieringa with a Lifetime Achievement Award at the IDMC-9 conference in Spain in 2013.
The IDMC meetings are unusual, Dr. Wieringa says, in that they include not only academics and researchers, but also clinicians, patients, and family caregivers. “At other scientific meetings, researchers hardly ever interact with physicians and patients, but at this one, we do. The patients and families provide enormous motivation for us in our work to understand the causes of this disease and its progression - why the symptoms worsen with age.”
One topic he expects to arise during this summer’s meetings is whether more research attention and funding should be directed toward the disease mechanism in the brain. To date, much research has focused on muscle tissue, in part because the cells are easier to study than brain cells. “But family members are very concerned with behavioral changes and increased sleepiness,” he says “Doctors need a better way to diagnose brain problems, and scientists need to understand more about the cells involved in the brain - what functions are distorted there.”
“Nonprofit organizations also need to rethink their goals for this particular disease. The mechanisms in brain and muscle are probably more or less similar, but we need proof of that. There should be more funding of brain studies—and we have to hope that this does not cause a loss of funding in the muscle field.”
Dr. Wieringa understands that progress toward improved diagnosis and therapeutics can seem frustratingly slow. One bright spot he sees on the horizon is the increasing understanding that the DM disease mechanisms may be similar to those responsible for diseases such as ALS and some other neurodegenerative disorders. The growing attention to the molecular underpinnings of these diseases should bring advances of importance to DM researchers, clinicians, and patients.
“The eventual goal is improved diagnosis and therapies,” he says. “I am optimistic that the day is coming when we will understand enough to slow or halt the progression of this complex and devastating disorder.”