Opening Up the Ivory Tower

When scientists and patients connect, everyone benefits

On the top floor of one of the nation's premier children's hospitals, in a lab protected by electronically sealed doors, scientists toil over experiments day and night. They navigate through a maze of lab benches and desks, attending to chemicals and computers. At times, they gather to discuss their research in the lab's large entryway — a domed, glass atrium that reveals the streets below and the sky above.

Eric Hoffman

This might seem like the proverbial ivory tower — the invisible fortification that guards scientists and their secrets from the rest of the world. In fact, it's far from it.

This is the Center of Genetic Medicine at Children's Research Institute, a high-tech lab perched atop Children's National Medical Center in suburban Washington. With MDA backing, scientists here are searching for treatments for several inherited neuromuscular diseases, including Duchenne muscular dystrophy (DMD).

And they're encouraging the active participation of people who are affected by those diseases.

The lab works closely with the hospital's MDA clinic, and some of its members head the Cooperative International Neuromuscular Research Group (CINRG, pronounced "synergy"), which organizes international, multicenter clinical trials for treatments of neuromuscular diseases.

The clinic sends patients' blood and tissue samples to the lab, the lab analyzes those samples for clues to disease mechanisms (and possible treatments), and CINRG sets up the clinical trials for testing those treatments. Meanwhile, the lab's analysis helps each patient get a diagnosis.

Clearly, when scientists and patients interact at this superficial level, there are positive impacts on research and on patient care. But it's important for scientists and patients to connect on other levels, says Eric Hoffman, MDA grantee and lead scientist at the genetics lab.

"People in the lab should be aware that they're dealing with a real person — not just a test tube that's nameless and faceless. Vice versa, it's important for the patients to know who the scientists are," Hoffman says.

At the Center of Genetic Medicine, the two groups have many opportunities to learn from each other and to accelerate research in the process, Hoffman and his colleagues say.

Research 101

"Because of the accessibility of medical literature on the Internet, our patients often know something about research and they have a lot of questions about it," says Cheryl Scacheri, a genetic counselor who divides her time between the medical center's MDA clinic and Hoffman's lab.

To help people learn about research into neuromuscular disease, Hoffman and his team often give tours of their lab (see "Lab Tour"). On a typical tour, the researchers explain that much of their work involves analyzing blood samples and muscle biopsies (samples of muscle tissue) for genetic abnormalities.

They say the analysis can reveal the defective genes that cause disease and, perhaps more important, it can reveal other genes that contribute to disease progression (see "Chipping Away"). Those genes might make ideal targets for therapy, they believe.

In addition to the overview of the lab's work, the tour usually includes a "mad scientist" routine, in which Hoffman and his team use standard lab materials to perform some sleight of hand.

Erik Henricson

The tour was "uplifting and encouraging," for Grace Cassidy. "It's good to know there's a purpose behind the muscle biopsy and the blood tests you put your child through," she says.

Anne Kennedy, program services coordinator for MDA's Fairfax, Va., district office, says she arranges tours of Hoffman's lab about once every six months and sends advance notice to local families in MDA's program.

Kennedy also arranges regular opportunities for families to meet with Hoffman's team and learn about general trends in research. About once a year, she organizes "research updates," seminars at which the scientists explain the latest research developments to large audiences. About four times a year, she sets up a more intimate gathering called a "lunch bunch," where families served by MDA can drop in on the scientists to chat with them over lunch in the hospital cafeteria.

Up-Close and Personal

While Hoffman and his team feel it's important for families to learn about research, they also recognize that they can learn a lot from families.

Diana Escolar

With that in mind, they often try to meet with families in informal settings. Such meetings enable the scientists to get to know the people they're trying to help, which in turn helps the scientists focus their research in the right direction.

"When we talk to people and find out what's important to them, we can design our studies with more of the social and quality-of-life issues in mind," says Erik Henricson, CINRG's program coordinator.

For example, "to find out what they expect from clinicians and researchers," CINRG Medical Director and MDA grantee Diana Escolar plans to meet with young men who have DMD — a group that has recently grown as treatments for the fatal disease have advanced.

Compared to boys with DMD, young adults with the disorder obviously have different medical needs, as well as different goals and expectations, says Escolar. For instance, many men with DMD go to college, and they might not have the time or interest to participate in clinical trials, she says.

Going to MDA summer camp gives the researchers another way to appreciate the practical issues of having a neuromuscular disease, as well as a chance to get out of the lab and have some fun. The scientists say that meeting with families in a recreational setting also helps dispel some negative stereotypes about research.

Jeni Stepanek of Upper Marlboro, Md., agrees. "There's an element of research that's scary," says Stepanek, who has mitochondrial myopathy. "When you meet [the researchers] and hear about their work, you realize that they're just like the colleagues you have at your work." That realization, she says, makes families more likely to get involved in research.

Working Together

People affected by neuromuscular diseases can become involved in research at several levels, say Hoffman and his team — from just giving a blood sample to actually working in the lab.

Marie Pichaske, whose 19-year-old son has DMD, began following Hoffman's work years ago, and became an administrative assistant for the lab last November.

"As a parent, I feel privileged to be here," says Pichaske. "I see these people working ungodly hours and really caring. It kind of makes you feel less alone."

While working in a lab isn't for everyone, participating in clinical trials is a highly valuable — yet often overlooked — way for many people to contribute to research, say members of the Hoffman lab.

"The more people are involved in clinical trials, the more we'll be able to determine better standards of care," says Henricson.

Henricson and Escolar say that low participation in clinical trials for DMD is delaying advances in treatment, and they urge more participation.

They're planning to test 12 drugs in clinical trials for DMD, many of which are over-the-counter vitamins and supplements. (Right now, they're testing glutamine and creatine in 5-to-9-year-old boys with DMD.) In most families with DMD, they say, parents probably already give their children these drugs and are holding out for clinical trials of more high-tech treatments (like gene therapy).

The problem, say Henricson and Escolar, is that these drugs haven't yet been tested for safety or efficacy. That means that no one knows the best way to administer them, or whether they're helpful or actually harmful. In the right combination, some of the drugs might have the power to stop DMD, says Escolar.

"People have to look at treatment in a different way," she says. "If they get the idea that our project is their project, that would be terrific."

If you're interested in getting acquainted with neuromuscular disease research — whether it's through joining a clinical trial or meeting some researchers — contact your local MDA office for opportunities in your area.

Jonathan Crowther (left), and Mattie Stepanek enjoy Hoffman's liquid nitrogen antics. Lab Tour Combines Learning and Laughter At the Center of Genetic Medicine at Children's National Medical Center in Washington, Eric Hoffman takes his research seriously. But five families got to see Hoffman's lighter side on a recent tour of his lab. After a brief rundown of the lab's mission (see "Research 101,"), Hoffman introduced the families to the lab's mascot — a pink-orange corn snake that wraps around visitors with a full-bodied hug. Escolar describes the lab's research to Mattie Stepanek (front) and the Cassidy family - Chris Sr., Grace, Chris Jr. and Christina. After parting from the snake (with some difficulty), the families followed Hoffman to the core of his lab, a small room where robots and computers manipulate the gene chips that will help Hoffman identify disease-associated genes (see "Chipping Away"). Hoffman explained how the gene chips work, noting that, although each chip can be used only once, afterward "it makes a great $5,000 key chain!" Eric Hoffman (right) shows a gene chip to Paula Kenney, her grandson Jonathan Crowther (center). For a few minutes, Hoffman's colleague Diana Escolar took over, and explained how research into treatment moves from basic studies in mice to clinical trials in people. Near the end of the tour, Hoffman created a bubbling brew with water and dry ice (frozen carbon dioxide). He drew strange looks and giggles as he sipped from the smoking solution and dared others to try it. Hoffman talks with Alice Ranagan after the tour. At the tour's finale, Hoffman treated the families to some tricks with liquid nitrogen — the stuff that turns people into instant icicles in the movies. Hoffman showed how a brief dip in the supercold fluid can turn rubber into peanut brittle, and explained that's how the lab freezes patients' muscle biopsies for long-term storage.

Story continues on next screen > >