Jill Rafael, Ph.D., 1999 Career Award in the Biomedical Sciences
October 2000 - As a child, Jill Rafael watched the Jerry Lewis telethons for muscular dystrophy. Seeing the crippled children on television made quite an impression. Today, her goal is no less than to understand the origin and development of neuromuscular disorders.
“I thought it was so sad young children had to go through that,” she says, recalling her telethon- watching days. So she did all that a six-year-old could do: she saved up her only income-- her allowance--and sent it to Jerry Lewis and the children with muscular dystrophy.
Jill Rafael, now 30 years old, holds a Ph.D. from the University of Michigan and is an assistant professor of molecular and cellular biochemistry at Ohio State University School of Medicine. Her receipt, in 1999, of a BWF Career Award in the Biomedical Sciences has provided the funds to start her laboratory, as well to launch a new project that has already borne fruit.
She is studying Duchenne muscular dystrophy (DMD), which is an inherited condition that, when it strikes, usually is present at birth. The disease causes the degeneration of skeletal muscle fibers, which are gradually replaced with fat and fibrous tissue. DMD usually leads to death before maturity, from either respiratory problems or heart failure.
Dr. Rafael is using mouse models to study the disproportion of abnormal skeletal muscle fiber in DMD. She hopes her research will eventually lead to the identification of the biochemical pathway for this abnormality. Such a discovery could lead to the development of new target therapies for the disease, she says.
The progression to heart failure among muscular dystrophy patients is understudied, Dr. Rafael says, and this is her second focus. Even when the skeletal muscle disorder in muscular dystrophy can be controlled, many patients will still die of heart failure. Not much is known about why this happens--“that’s why we’re studying it,” she says.
In addition to these areas of study, Dr. Rafael is working in a fresh, new direction for muscular dystrophy research. In recent years, scientists have discovered a network of proteins at brain synapses, which are the sites at the ends of nerve cells where signals pass from one neuron to another. The function of these proteins, called PDZ domain-containing proteins, is to cluster channels and receptors at the synapses.
Dr. Rafael thought similar networks might also be present in skeletal muscles at the junction of the nerve and muscle. She set out to determine if these networks indeed exist, and if they would lead to new information about neuromuscular diseases and their causes.
The fact that the PDZ project is now under way is due, in part, to the financial backing she has from her BWF award, Dr. Rafael says. “The award has given me the freedom to start something completely novel,” she says. And that is exactly what the PDZ project is: it began with an innovative, new idea, which she then pursued with her BWF funding.
Without the award, Dr. Rafael says, she would have had to depend on obtaining federal funds from the National Institutes of Health. This would have made her work considerably more difficult, she explains, because researchers typically cannot obtain funding for a project without a significant collection of data already available. This would have forced a young scientist like Dr. Rafael to build on other scientists’ existing work, instead of pursuing new ideas of her own.
Only a short while into the project, Dr. Rafael discovered four of these PDZ networks in skeletal muscle. Their existence might mean that these PDZ domains play a role in neuromuscular disease. And that may lead to a better understanding of these diseases--and possibly to new treatments.
“It would be nice to understand the pathogenesis of all neuromuscular disorders and to be able to treat them,” says Dr. Rafael, who is now fulfilling the dreams of that six-year-old child.
Questions for Dr. Jill Rafael:
When did you discover you wanted to be a scientist?
In seventh grade, I had a science teacher who taught us about genetics, and I thought that conducting genetic research on neuromuscular diseases was the best way that I could go about trying to help children with these diseases.
What has your BWF grant meant for your research?
It has given me the freedom to pursue novel areas of research into neuromuscular diseases and to acquire the preliminary data needed to apply for and be awarded grants from the NIH. Without this award, I would have had to continue only the exact line of research that I had been pursuing prior to starting my own laboratory in order to immediately apply for federal funding. It is so wonderful to have the opportunity to pursue new creative ideas when starting your own laboratory.
What is the best thing about your job?
The enthusiasm and dedication of my staff and students for the research that we do in the lab.
What is your philosophy with respect to your research?
I think it’s really important to attempt to think of novel ways to approach scientific questions. Since the ultimate goal of what I do is to cure diseases, I don’t feel that it is productive for 20 different laboratories to be doing the exact same experiments. I also think that it is important in any workplace, including the laboratory, to provide a good atmosphere, since it is much easier to run a lab full of people who enjoy their jobs.
What kind of advice would you give a scientist just entering academic research?
I would say that students entering graduate school should carefully pick the lab in which they choose to do their thesis research. It is important to choose an adviser who has time for you and has your interests at heart. Although really large labs appear attractive, you may regularly interact only with a post-doc rather than the principal investigator of the lab. You also may miss important opportunities, such as learning how to write grant proposals and manuscripts, since these tasks often will be carried out by the post-docs in a large lab.
What area of science is in most need of new researchers?
Since enormous amounts of DNA sequence have been produced from the Human Genome Project and sequencing projects of other species’ genomes, there is a real need for people who can create methods to analyze this data. Bioinformatics is certainly a growing field. However, there is always a place in both academia and industry for creative, enthusiastic people interested in any area of science.
What do you do for fun?
I love traveling and exploring new places. I also really enjoy outdoor activities like camping, hiking, canoeing, and gardening.
What is the best book you ever read?
I’m a Stranger Here Myself, by Bill Bryson, a year-long compilation of weekly newspaper columns by this travel writer who returned to live in the United States after spending most of his adult life in the United Kingdom. Since I spent three years living in the United Kingdom, many of Bryson’s accounts seem very familiar to me.
By Megan Butler, Communications Intern